Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.

Published

Journal Article

We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. His neurologic symptoms improved markedly on biotin supplementation and antiepileptic drug therapy. DNA mutational analysis revealed that the patient was homozygous for a novel E64K mutation and his parents were heterozygous for the same mutation. Whereas preexisting perinatal distress probably contributed to the severity of the patient's symptoms, the described mutation is novel and is possibly responsible for at least some of his clinical manifestations.

Full Text

Duke Authors

Cited Authors

  • Mikati, MA; Zalloua, P; Karam, P; Habbal, M-Z; Rahi, AC

Published Date

  • November 2006

Published In

Volume / Issue

  • 21 / 11

Start / End Page

  • 978 - 981

PubMed ID

  • 17092467

Pubmed Central ID

  • 17092467

International Standard Serial Number (ISSN)

  • 0883-0738

Digital Object Identifier (DOI)

  • 10.1177/08830738060210110301

Language

  • eng

Conference Location

  • United States