KEGG   DISEASE: Holocarboxylase synthetase deficiency
Entry
H00180                      Disease                                

Name
Holocarboxylase synthetase deficiency;
Multiple carboxylase deficiency
Description
Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple carboxylase deficiency, because deficient HLCS activity results in reduced activity of multiple carboxylases. In humans, four carboxylases are known to be biotinylated by HLCS. They are pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and acetyl-CoA carboxylase. Symptoms of HLCS deficiency include metabolic acidosis, a characteristic organic aciduria, lethargy, hypotonia, convulsions, and dermatitis.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H00180  Holocarboxylase synthetase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00180  Holocarboxylase synthetase deficiency
Pathway
hsa00780  Biotin metabolism
Gene
HLCS; holocarboxylase synthetase [HSA:3141] [KO:K01942]
Other DBs
ICD-11: 5C50.E0
ICD-10: E53.8
MeSH: D028922
OMIM: 253270
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)
DOI:10.1002/humu.20204
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)
DOI:10.1016/S0188-4409(02)00399-5
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