Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases

J Inherit Metab Dis. 2005;28(6):903-12. doi: 10.1007/s10545-005-0161-3.


We report 32 biotinidase-deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18 siblings. There were 17 individuals (3 mothers, 4 fathers and 10 siblings) with profound biotinidase deficiency (BD) (< 10% of mean normal activity) and 15 (7 mothers and 8 siblings) with partial BD (10-30% of mean normal activity). In the profound BD group, only three siblings were symptomatic. Dermatitis, microcephaly, developmental delay and convulsions were observed. The patients with partial BD did not have any clinical symptoms except one sibling with borderline IQ score. None of the parents was symptomatic. Family investigation of patients with BD is very important for the detection of asymptomatic patients who are at risk of exhibiting symptoms at any age. Careful evaluation of these untreated individuals with BD is important to obtain additional information about the natural history of this disorder and may provide clues to phenotype-genotype relationships and treatment regimes.

MeSH terms

  • Adult
  • Alleles
  • Biotin / chemistry
  • Biotinidase / genetics*
  • Biotinidase / metabolism
  • Biotinidase Deficiency / genetics
  • Child
  • Child, Preschool
  • Family Health
  • Fathers
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Mothers
  • Mutation
  • Phenotype
  • Risk
  • Siblings


  • Biotin
  • Biotinidase