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[Biotinidase deficiency. Progressive encephalopathy curable with biotin]
1Service de Neurologie Pédiatrique, Hôpital Saint-Vincent-de-Paul, Paris.
Archives Francaises De Pediatrie
|December 1, 1993
Summary
Biotinidase deficiency, a rare cause of progressive encephalopathy, can be effectively treated with biotin supplementation. Early diagnosis and treatment prevent developmental delays in infants with this metabolic disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Multiple carboxylase deficiency is a rare metabolic disorder causing progressive encephalopathy.
- It presents in two forms: neonatal-onset holocarboxylase synthetase deficiency and late-onset biotinidase deficiency.
- This case report focuses on a patient diagnosed with biotinidase deficiency.