Holocarboxylase synthetase deficiency

Definition

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.

References:

[1]. Diana Pacheco-Alvarez, et al. Biotin in metabolism and its relationship to human disease. Arch Med Res. 2002 Sep-Oct;33(5):439-47. [Content Brief]

[2]. Yoichi Suzuki, et al. Mutations in the holocarboxylase synthetase gene HLCS. Hum Mutat. 2005 Oct;26(4):285-90. [Content Brief]

生物医学辞典

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