Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in ge...
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Autor*in:	Ankur Singh [verfasserIn] Avinash Lomash [verfasserIn] Sanjeev Pandey [verfasserIn] Seema Kapoor [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	hypotonia rash seizures

Übergeordnetes Werk:	In: Journal of Clinical and Diagnostic Research - JCDR Research and Publications Private Limited, 2009, 9(2015), 12, Seite SC08-SC10
Übergeordnetes Werk:	volume:9 ; year:2015 ; number:12 ; pages:SC08-SC10

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.7860/JCDR/2015/12958.6941

Katalog-ID:	DOAJ039411915

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520			\|a Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
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spelling	10.7860/JCDR/2015/12958.6941 doi (DE-627)DOAJ039411915 (DE-599)DOAJ40a8478e4f964b22ab06e9bf092db81f DE-627 ger DE-627 rakwb eng Ankur Singh verfasserin aut Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder. hypotonia rash seizures Medicine R Avinash Lomash verfasserin aut Sanjeev Pandey verfasserin aut Seema Kapoor verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 9(2015), 12, Seite SC08-SC10 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:9 year:2015 number:12 pages:SC08-SC10 https://doi.org/10.7860/JCDR/2015/12958.6941 kostenfrei https://doaj.org/article/40a8478e4f964b22ab06e9bf092db81f kostenfrei https://jcdr.net/articles/PDF/6941/12958_CE(RA1)_F(T)_PF1(BMAK)_PFA(AK)_PF2(PAG).pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2015 12 SC08-SC10
allfields_unstemmed	10.7860/JCDR/2015/12958.6941 doi (DE-627)DOAJ039411915 (DE-599)DOAJ40a8478e4f964b22ab06e9bf092db81f DE-627 ger DE-627 rakwb eng Ankur Singh verfasserin aut Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder. hypotonia rash seizures Medicine R Avinash Lomash verfasserin aut Sanjeev Pandey verfasserin aut Seema Kapoor verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 9(2015), 12, Seite SC08-SC10 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:9 year:2015 number:12 pages:SC08-SC10 https://doi.org/10.7860/JCDR/2015/12958.6941 kostenfrei https://doaj.org/article/40a8478e4f964b22ab06e9bf092db81f kostenfrei https://jcdr.net/articles/PDF/6941/12958_CE(RA1)_F(T)_PF1(BMAK)_PFA(AK)_PF2(PAG).pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2015 12 SC08-SC10
allfieldsGer	10.7860/JCDR/2015/12958.6941 doi (DE-627)DOAJ039411915 (DE-599)DOAJ40a8478e4f964b22ab06e9bf092db81f DE-627 ger DE-627 rakwb eng Ankur Singh verfasserin aut Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder. hypotonia rash seizures Medicine R Avinash Lomash verfasserin aut Sanjeev Pandey verfasserin aut Seema Kapoor verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 9(2015), 12, Seite SC08-SC10 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:9 year:2015 number:12 pages:SC08-SC10 https://doi.org/10.7860/JCDR/2015/12958.6941 kostenfrei https://doaj.org/article/40a8478e4f964b22ab06e9bf092db81f kostenfrei https://jcdr.net/articles/PDF/6941/12958_CE(RA1)_F(T)_PF1(BMAK)_PFA(AK)_PF2(PAG).pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2015 12 SC08-SC10
allfieldsSound	10.7860/JCDR/2015/12958.6941 doi (DE-627)DOAJ039411915 (DE-599)DOAJ40a8478e4f964b22ab06e9bf092db81f DE-627 ger DE-627 rakwb eng Ankur Singh verfasserin aut Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder. hypotonia rash seizures Medicine R Avinash Lomash verfasserin aut Sanjeev Pandey verfasserin aut Seema Kapoor verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 9(2015), 12, Seite SC08-SC10 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:9 year:2015 number:12 pages:SC08-SC10 https://doi.org/10.7860/JCDR/2015/12958.6941 kostenfrei https://doaj.org/article/40a8478e4f964b22ab06e9bf092db81f kostenfrei https://jcdr.net/articles/PDF/6941/12958_CE(RA1)_F(T)_PF1(BMAK)_PFA(AK)_PF2(PAG).pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2015 12 SC08-SC10
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author	Ankur Singh
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topic_title	Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India hypotonia rash seizures
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title	Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
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title_full	Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
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author_browse	Ankur Singh Avinash Lomash Sanjeev Pandey Seema Kapoor
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title_sort	clinical, biochemical and outcome profile of biotinidase deficient patients from tertiary centre in northern india
title_auth	Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
abstract	Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
abstractGer	Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
abstract_unstemmed	Introduction: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. Materials and Methods: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. Results: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08— 1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (< 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. Conclusion: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
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title_short	Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
url	https://doi.org/10.7860/JCDR/2015/12958.6941 https://doaj.org/article/40a8478e4f964b22ab06e9bf092db81f https://jcdr.net/articles/PDF/6941/12958_CE(RA1)_F(T)_PF1(BMAK)_PFA(AK)_PF2(PAG).pdf https://doaj.org/toc/2249-782X https://doaj.org/toc/0973-709X
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up_date	2024-07-03T23:13:50.678Z
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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

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