Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylm...
Ausführliche Beschreibung
Gespeichert in:
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E-Artikel |
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Englisch |
| Erschienen: |
1997 |
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3 |
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Springer Online Journal Archives 1860-2002 |
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| Übergeordnetes Werk: |
in: European journal of pediatrics - 1910, 156(1997) vom: Okt., Seite 800-802 |
| Übergeordnetes Werk: |
volume:156 ; year:1997 ; month:10 ; pages:800-802 ; extent:3 |
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| 520 | |a Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. | ||
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(DE-627)NLEJ205204929 DE-627 ger DE-627 rakwb eng Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 1997 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. Springer Online Journal Archives 1860-2002 Sperl, W. oth Geiger, R. oth Lehnert, W. oth Rhead, W. oth in European journal of pediatrics 1910 156(1997) vom: Okt., Seite 800-802 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:156 year:1997 month:10 pages:800-802 extent:3 http://dx.doi.org/10.1007/s004310050717 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 156 1997 10 800-802 3 |
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(DE-627)NLEJ205204929 DE-627 ger DE-627 rakwb eng Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 1997 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. Springer Online Journal Archives 1860-2002 Sperl, W. oth Geiger, R. oth Lehnert, W. oth Rhead, W. oth in European journal of pediatrics 1910 156(1997) vom: Okt., Seite 800-802 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:156 year:1997 month:10 pages:800-802 extent:3 http://dx.doi.org/10.1007/s004310050717 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 156 1997 10 800-802 3 |
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(DE-627)NLEJ205204929 DE-627 ger DE-627 rakwb eng Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 1997 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. Springer Online Journal Archives 1860-2002 Sperl, W. oth Geiger, R. oth Lehnert, W. oth Rhead, W. oth in European journal of pediatrics 1910 156(1997) vom: Okt., Seite 800-802 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:156 year:1997 month:10 pages:800-802 extent:3 http://dx.doi.org/10.1007/s004310050717 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 156 1997 10 800-802 3 |
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(DE-627)NLEJ205204929 DE-627 ger DE-627 rakwb eng Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 1997 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. Springer Online Journal Archives 1860-2002 Sperl, W. oth Geiger, R. oth Lehnert, W. oth Rhead, W. oth in European journal of pediatrics 1910 156(1997) vom: Okt., Seite 800-802 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:156 year:1997 month:10 pages:800-802 extent:3 http://dx.doi.org/10.1007/s004310050717 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 156 1997 10 800-802 3 |
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(DE-627)NLEJ205204929 DE-627 ger DE-627 rakwb eng Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency 1997 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. Springer Online Journal Archives 1860-2002 Sperl, W. oth Geiger, R. oth Lehnert, W. oth Rhead, W. oth in European journal of pediatrics 1910 156(1997) vom: Okt., Seite 800-802 (DE-627)NLEJ18898559X (DE-600)1459063-3 1432-1076 nnns volume:156 year:1997 month:10 pages:800-802 extent:3 http://dx.doi.org/10.1007/s004310050717 GBV_USEFLAG_U ZDB-1-SOJ GBV_NL_ARTICLE AR 156 1997 10 800-802 3 |
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stridor as the major presenting symptom in riboflavin-responsive multiple acyl-coa dehydrogenation deficiency |
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Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency |
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Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. |
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Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. |
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Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">NLEJ205204929</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20210706171941.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">070528s1997 xx |||||o 00| ||eng c</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)NLEJ205204929</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">Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">1997</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 Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor.</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">Sperl, W.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Geiger, R.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Lehnert, W.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Rhead, W.</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">156(1997) vom: Okt., Seite 800-802</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:156</subfield><subfield code="g">year:1997</subfield><subfield code="g">month:10</subfield><subfield code="g">pages:800-802</subfield><subfield code="g">extent:3</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">http://dx.doi.org/10.1007/s004310050717</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">156</subfield><subfield code="j">1997</subfield><subfield code="c">10</subfield><subfield code="h">800-802</subfield><subfield code="g">3</subfield></datafield></record></collection>
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