Biotinidase deficiency: An atypical presentation

Jagadeesh Sujatha, Suresh Beena, Seshadri Suresh, Suzuki Yoichi

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)29-30
Number of pages2
JournalNational Medical Journal of India
Volume26
Issue number1
Publication statusPublished - 2013 Jan 1

ASJC Scopus subject areas

  • Medicine(all)

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