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Entry Name Description Category Pathway Gene
H00180 Holocarboxylase synthetase deficiency
Multiple carboxylase deficiency
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 ... Inherited metabolic disorder HLCS [HSA:3141] [KO:K01942]
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