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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
PubMed

Insights

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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