Profound biotinidase deficiency in a child with predominantly spinal cord disease

Aziza K. Chedrawi, Ayman Ali, Zuhair N. Al Hassnan, Muhammad Faiyaz-Ul-Haque, Barry Wolf

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay. Spinal cord disease has been reported rarely. We describe a 3-year-old boy with profound biotinidase deficiency who presented with progressive spastic paraparesis and ascending weakness in the absence of the usual characteristic neurological manifestations. Supplementation with biotin resulted in resolution of paraparesis with persistent mild spasticity in the lower limbs. DNA mutation analysis revealed that he was homozygous for a novel missense mutation (C>T1339;H447Y) in the BTD gene. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage.

Original languageEnglish (US)
Pages (from-to)1043-1048
Number of pages6
JournalJournal of child neurology
Issue number9
StatePublished - 2008


  • Biotinidase deficiency
  • Gene mutation
  • Spinal cord disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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