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GENATLAS PHENOTYPE
last update : 11-07-2011
Symbol HLCS
Location 21q22.2
Name holocarboxylase synthetase deficiency
Other name(s)
  • biotin-responsive multiple carboxylase deficiency
  • multiple carboxylase deficiency, neonatal form
    • Corresponding gene HLCS
    related resource MITOP database
    Other symbol(s) HCS
    Main clinical features
  • early onset, with feeding difficulties, hypotonia, seizures, dermatitis, lethargy and metabolic acidosis , hyperammonemia, organic aciduria, biotin responsive or not
  • skin lesions and severe metabolic acidosis (PMID: 20095979))
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/vitamin
    Type disease
    Gene product
    Name holocarboxylase synthetase, biotin dependent (HLCS)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R508W and V550M, recurrent mutations
    Remark(s)