Biotinidase deficiency: An atypical presentation

Jagadeesh Sujatha; Suresh Beena; Seshadri Suresh; Suzuki Yoichi

Biotinidase deficiency: An atypical presentation

Jagadeesh Sujatha, Suresh Beena, Seshadri Suresh, Suzuki Yoichi

Tohoku Medical Megabank Organization (ToMMo)

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.

Original language	English
Pages (from-to)	29-30
Number of pages	2
Journal	National Medical Journal of India
Volume	26
Issue number	1
Publication status	Published - 2013 Jan 1

ASJC Scopus subject areas

Medicine(all)

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abstract = "Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.",

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AU - Suresh, Seshadri

AU - Yoichi, Suzuki

PY - 2013/1/1

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AB - Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.

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Biotinidase deficiency: An atypical presentation

Abstract

ASJC Scopus subject areas

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