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Biotinidase deficiency: a treatable leukoencephalopathy

S Grünewald1, M P Champion, J V Leonard

  • 1Children's Hospital, University Hospital Essen, Essen, Germany. stephanie.gruenewald@uni-essen.de

Neuropediatrics
|August 26, 2004
PubMed

Insights

Biotinidase deficiency can cause severe neurological issues, including leukoencephalopathy, in infants. Early diagnosis and biotin treatment are crucial for improving myelination and preventing long-term neurological sequelae.

Area of Science:

  • Neurology
  • Biochemistry
  • Medical Genetics

Background:

  • Biotinidase deficiency is an inherited metabolic disorder.
  • It can lead to severe neurological impairment if not diagnosed and treated early.
  • UK neonatal screening for this disorder is not standard.

Purpose of the Study:

  • To review clinical and neuroradiological findings in patients with biotinidase deficiency.
  • To highlight the importance of early diagnosis and treatment.
  • To emphasize the role of biotinidase deficiency in unexplained neurological problems.

Main Methods:

  • Retrospective review of clinical history.
  • Analysis of neuroradiological findings in 5 patients.
  • Assessment of treatment response with biotin.

Main Results:

  • Patients presented between 4 weeks and 5 months of age.
  • Cerebral imaging showed leukoencephalopathy, ventricular widening, and CSF space enlargement.
  • White matter abnormalities included delayed myelination and subcortical changes.
  • Biotin treatment improved myelination in some cases, but progressive atrophy occurred in others.
  • Most patients had lasting neurological sequelae.

Conclusions:

  • Biotinidase deficiency should be considered in infants with unexplained neurological symptoms.
  • Neonatal screening is essential for early detection and better outcomes.
  • Prompt biotin treatment can mitigate some neurological damage.

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