Biotinidase deficiency: an atypical presentation.
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.
Mediscan Systems, 197 Dr Natesan Road, Mylapore, Chennai 600004, Tamil Nadu, India - Department of Genetics.
Sujatha
S
Jagadeesh
Beena
B
Suresh
Suresh
S
Seshadri
Yoichi
Y
Suzuki
D000505:Alopecia / Q000209:etiology; D028921:Biotinidase Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000209:etiology; D007231:Infant, Newborn; D012640:Seizures / Q000209:etiology