KEGG   DISEASE: H00180Help
Entry
H00180                      Disease                                
Name
Holocarboxylase synthetase deficiency
Description
Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism that results from biotinidase or holocarboxylase synthetase activity disruption.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Biotin metabolism
Gene
HLCS; holocarboxylase synthetase [HSA:3141] [KO:K01942]
Drug
Biotin [DR:D00029]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y
  Title
Mutations in the holocarboxylase synthetase gene HLCS.
  Journal
Hum Mutat 26:285-90 (2005)
Reference
  Authors
Pacheco-Alvarez D, Solorzano-Vargas RS, Del Rio AL
  Title
Biotin in metabolism and its relationship to human disease.
  Journal
Arch Med Res 33:439-47 (2002)

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