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Entry Name Description Category Pathway Gene
H02711 Acetyl-CoA carboxylase-alpha deficiency Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is a rare autosomal recessive inborn error of metabolism caused by mutations in ACACA. ACACAD is characterized by hypotonia, motor and intellectual developmental ... Inherited metabolic disorder ACACA [HSA:31] [KO:K11262]
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