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Biotinidase deficiency in childhood
Viswanathan Venkataraman1, Padma Balaji, Debasis Panigrahi
1Department of Pediatric Neurology, Kanchi Kamakoti Childs Trust Hospital, Nungambakkam, Chennai, Tamil Nadu, India.
Neurology India
|September 6, 2013
Summary
Biotinidase deficiency, a treatable metabolic disorder, can cause seizures and neurological symptoms in infants. Early diagnosis and biotin treatment lead to dramatic seizure control and prevent severe complications.
Area of Science:
- Metabolic disorders
- Biochemistry
- Clinical genetics
Background:
- Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
- Early diagnosis and treatment are crucial to prevent neurological sequelae.
Observation:
- Seven patients with biotinidase deficiency were studied.
- Presentation varied from birth to 5 months, with seizures being the most common symptom.
- Cutaneous manifestations like sparse hair were present in some, but not all patients.
Findings:
- Serum biotinidase activity was measured using spectrophotometric analysis.
- All patients showed a dramatic clinical response to biotin supplementation, with complete seizure control.
- No patients developed acidosis or hyperammonemia; however, one patient had a residual neurological deficit.
Implications:
- Biotinidase deficiency should be considered in infants with neurological symptoms, particularly seizures, even without typical skin or laboratory findings.
- Prompt biotin treatment is effective in managing seizures and preventing severe outcomes like optic atrophy and hearing loss.
- This highlights the importance of newborn screening and timely intervention for metabolic disorders.
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