H00180 | |
H number | H00180 |
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 disorder |
Network | - |
Gene | HLCS [HSA:3141] [KO:K01942] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.E0 ICD-10: E53.8 MeSH: D028922 OMIM: 253270 |
Reference | PMID:16134170 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 PMID:12459313 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 |