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 |
ASJC Scopus subject areas
- Medicine(all)