Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria
Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosp...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
1986 |
|---|
| Umfang: |
3 |
|---|
| Reproduktion: |
Springer Online Journal Archives 1860-2002 |
|---|---|
| Übergeordnetes Werk: |
in: European journal of pediatrics - 1910, 145(1986) vom: März, Seite 176-178 |
| Übergeordnetes Werk: |
volume:145 ; year:1986 ; month:03 ; pages:176-178 ; extent:3 |
| Links: |
|---|
| Katalog-ID: |
NLEJ205170269 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLEJ205170269 | ||
| 003 | DE-627 | ||
| 005 | 20210706171438.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 070528s1986 xx |||||o 00| ||eng c | ||
| 035 | |a (DE-627)NLEJ205170269 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 245 | 1 | 0 | |a Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| 264 | 1 | |c 1986 | |
| 300 | |a 3 | ||
| 336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
| 337 | |a nicht spezifiziert |b z |2 rdamedia | ||
| 338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
| 520 | |a Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. | ||
| 533 | |f Springer Online Journal Archives 1860-2002 | ||
| 700 | 1 | |a Niederwieser, A. |4 oth | |
| 700 | 1 | |a Shintaku, H. |4 oth | |
| 700 | 1 | |a Hasler, Th. |4 oth | |
| 700 | 1 | |a Curtius, H. Ch. |4 oth | |
| 700 | 1 | |a Lehmann, H. |4 oth | |
| 700 | 1 | |a Guardamagna, O. |4 oth | |
| 700 | 1 | |a Schmidt, H. |4 oth | |
| 773 | 0 | 8 | |i in |t European journal of pediatrics |d 1910 |g 145(1986) vom: März, Seite 176-178 |w (DE-627)NLEJ18898559X |w (DE-600)1459063-3 |x 1432-1076 |7 nnns |
| 773 | 1 | 8 | |g volume:145 |g year:1986 |g month:03 |g pages:176-178 |g extent:3 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/BF00446058 |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a ZDB-1-SOJ | ||
| 912 | |a GBV_NL_ARTICLE | ||
| 951 | |a AR | ||
| 952 | |d 145 |j 1986 |c 3 |h 176-178 |g 3 | ||
| matchkey_str |
article:14321076:1986----::rntligoiodhdoipeisnhtsdfcecaain |
|---|---|
| hierarchy_sort_str |
1986 |
| publishDate |
1986 |
| allfields |
(DE-627)NLEJ205170269 DE-627 ger DE-627 rakwb eng Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria 1986 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. Springer Online Journal Archives 1860-2002 Niederwieser, A. oth Shintaku, H. oth Hasler, Th. oth Curtius, H. Ch. oth Lehmann, H. oth Guardamagna, O. oth Schmidt, H. oth in European journal of pediatrics 1910 145(1986) vom: März, Seite 176-178 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:145 year:1986 month:03 pages:176-178 extent:3 http://dx.doi.org/10.1007/BF00446058 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 145 1986 3 176-178 3 |
| spelling |
(DE-627)NLEJ205170269 DE-627 ger DE-627 rakwb eng Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria 1986 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. Springer Online Journal Archives 1860-2002 Niederwieser, A. oth Shintaku, H. oth Hasler, Th. oth Curtius, H. Ch. oth Lehmann, H. oth Guardamagna, O. oth Schmidt, H. oth in European journal of pediatrics 1910 145(1986) vom: März, Seite 176-178 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:145 year:1986 month:03 pages:176-178 extent:3 http://dx.doi.org/10.1007/BF00446058 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 145 1986 3 176-178 3 |
| allfields_unstemmed |
(DE-627)NLEJ205170269 DE-627 ger DE-627 rakwb eng Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria 1986 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. Springer Online Journal Archives 1860-2002 Niederwieser, A. oth Shintaku, H. oth Hasler, Th. oth Curtius, H. Ch. oth Lehmann, H. oth Guardamagna, O. oth Schmidt, H. oth in European journal of pediatrics 1910 145(1986) vom: März, Seite 176-178 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:145 year:1986 month:03 pages:176-178 extent:3 http://dx.doi.org/10.1007/BF00446058 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 145 1986 3 176-178 3 |
| allfieldsGer |
(DE-627)NLEJ205170269 DE-627 ger DE-627 rakwb eng Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria 1986 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. Springer Online Journal Archives 1860-2002 Niederwieser, A. oth Shintaku, H. oth Hasler, Th. oth Curtius, H. Ch. oth Lehmann, H. oth Guardamagna, O. oth Schmidt, H. oth in European journal of pediatrics 1910 145(1986) vom: März, Seite 176-178 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:145 year:1986 month:03 pages:176-178 extent:3 http://dx.doi.org/10.1007/BF00446058 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 145 1986 3 176-178 3 |
| allfieldsSound |
(DE-627)NLEJ205170269 DE-627 ger DE-627 rakwb eng Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria 1986 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. Springer Online Journal Archives 1860-2002 Niederwieser, A. oth Shintaku, H. oth Hasler, Th. oth Curtius, H. Ch. oth Lehmann, H. oth Guardamagna, O. oth Schmidt, H. oth in European journal of pediatrics 1910 145(1986) vom: März, Seite 176-178 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:145 year:1986 month:03 pages:176-178 extent:3 http://dx.doi.org/10.1007/BF00446058 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 145 1986 3 176-178 3 |
| language |
English |
| source |
in European journal of pediatrics 145(1986) vom: März, Seite 176-178 volume:145 year:1986 month:03 pages:176-178 extent:3 |
| sourceStr |
in European journal of pediatrics 145(1986) vom: März, Seite 176-178 volume:145 year:1986 month:03 pages:176-178 extent:3 |
| format_phy_str_mv |
Article |
| institution |
findex.gbv.de |
| isfreeaccess_bool |
false |
| container_title |
European journal of pediatrics |
| authorswithroles_txt_mv |
Niederwieser, A. @@oth@@ Shintaku, H. @@oth@@ Hasler, Th. @@oth@@ Curtius, H. Ch. @@oth@@ Lehmann, H. @@oth@@ Guardamagna, O. @@oth@@ Schmidt, H. @@oth@@ |
| publishDateDaySort_date |
1986-03-01T00:00:00Z |
| hierarchy_top_id |
NLEJ18898559X |
| id |
NLEJ205170269 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">NLEJ205170269</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20210706171438.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">070528s1986 xx |||||o 00| ||eng c</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)NLEJ205170269</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1986</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">3</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible.</subfield></datafield><datafield tag="533" ind1=" " ind2=" "><subfield code="f">Springer Online Journal Archives 1860-2002</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Niederwieser, A.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Shintaku, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hasler, Th.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Curtius, H. Ch.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lehmann, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Guardamagna, O.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Schmidt, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">in</subfield><subfield code="t">European journal of pediatrics</subfield><subfield code="d">1910</subfield><subfield code="g">145(1986) vom: März, Seite 176-178</subfield><subfield code="w">(DE-627)NLEJ18898559X</subfield><subfield code="w">(DE-600)1459063-3</subfield><subfield code="x">1432-1076</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:145</subfield><subfield code="g">year:1986</subfield><subfield code="g">month:03</subfield><subfield code="g">pages:176-178</subfield><subfield code="g">extent:3</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1007/BF00446058</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-1-SOJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_NL_ARTICLE</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">145</subfield><subfield code="j">1986</subfield><subfield code="c">3</subfield><subfield code="h">176-178</subfield><subfield code="g">3</subfield></datafield></record></collection>
|
| series2 |
Springer Online Journal Archives 1860-2002 |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)NLEJ18898559X |
| format |
electronic Article |
| delete_txt_mv |
keep |
| collection |
NL |
| remote_str |
true |
| illustrated |
Not Illustrated |
| issn |
1432-1076 |
| topic_title |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
a n an h s hs t h th h c c hc hcc h l hl o g og h s hs |
| hierarchy_parent_title |
European journal of pediatrics |
| hierarchy_parent_id |
NLEJ18898559X |
| hierarchy_top_title |
European journal of pediatrics |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)NLEJ18898559X (DE-600)1459063-3 |
| title |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| spellingShingle |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| ctrlnum |
(DE-627)NLEJ205170269 |
| title_full |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| journal |
European journal of pediatrics |
| journalStr |
European journal of pediatrics |
| lang_code |
eng |
| isOA_bool |
false |
| recordtype |
marc |
| publishDateSort |
1986 |
| contenttype_str_mv |
zzz |
| container_start_page |
176 |
| container_volume |
145 |
| physical |
3 |
| format_se |
Elektronische Aufsätze |
| title_sort |
prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| title_auth |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| abstract |
Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. |
| abstractGer |
Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. |
| abstract_unstemmed |
Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible. |
| collection_details |
GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE |
| title_short |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria |
| url |
http://dx.doi.org/10.1007/BF00446058 |
| remote_bool |
true |
| author2 |
Niederwieser, A. Shintaku, H. Hasler, Th Curtius, H. Ch Lehmann, H. Guardamagna, O. Schmidt, H. |
| author2Str |
Niederwieser, A. Shintaku, H. Hasler, Th Curtius, H. Ch Lehmann, H. Guardamagna, O. Schmidt, H. |
| ppnlink |
NLEJ18898559X |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth oth oth oth oth oth oth |
| up_date |
2024-07-06T02:57:13.969Z |
| _version_ |
1803796751548678144 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">NLEJ205170269</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20210706171438.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">070528s1986 xx |||||o 00| ||eng c</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)NLEJ205170269</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1986</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">3</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with “dihydrobiopterin synthetase” (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/l) and biopterin in very low concentrations (1.8 nmol/l). The activity of the phosphate-eliminating enzyme (PEE, also called 6-pyruvoyl tetrahydropterin synthase, substrate: 7,8-dihydroneoptein triphosphate) which is present in liver and erythrocytes and defective in DHBS deficiency, was measured in the erythrocytes of the family members. The fetal sample showed only 2% of the activity of healthy adult controls and was comparable with that of the affected sibling. Obligate heterozygotes had activities around 20% of the controls. Two fetal control samples showed even higher activities than adult erythrocytes. Sepiapterin reductase activities were normal in all cases. At autopsy, PEE deficiency was confirmed in the liver of the fetus. We concluded that DHBS deficiency (and most probably also GTP cyclohydrolase I deficiency) can be diagnosed by metabolite measurements in amniotic fluid. PEE activity is measurable in erythrocytes, although the assay needs to be improved. Since maternal tetrahydrobiopterin does not cross the placenta, treatment of a tetrahydrobiopterin-deficient fetus with tetrahydrobiopterin in utero is not possible.</subfield></datafield><datafield tag="533" ind1=" " ind2=" "><subfield code="f">Springer Online Journal Archives 1860-2002</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Niederwieser, A.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Shintaku, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hasler, Th.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Curtius, H. Ch.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lehmann, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Guardamagna, O.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Schmidt, H.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">in</subfield><subfield code="t">European journal of pediatrics</subfield><subfield code="d">1910</subfield><subfield code="g">145(1986) vom: März, Seite 176-178</subfield><subfield code="w">(DE-627)NLEJ18898559X</subfield><subfield code="w">(DE-600)1459063-3</subfield><subfield code="x">1432-1076</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:145</subfield><subfield code="g">year:1986</subfield><subfield code="g">month:03</subfield><subfield code="g">pages:176-178</subfield><subfield code="g">extent:3</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1007/BF00446058</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-1-SOJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_NL_ARTICLE</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">145</subfield><subfield code="j">1986</subfield><subfield code="c">3</subfield><subfield code="h">176-178</subfield><subfield code="g">3</subfield></datafield></record></collection>
|
| score |
7.4017324 |