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 delay. ACACA encodes acetyl-CoA carboxylase which is the rate-limiting enzyme in the de novo biosynthesis of fatty acids.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 Inborn errors of lipid metabolism
H02711 Acetyl-CoA carboxylase-alpha deficiency
Lou X, Zhou X, Li H, Lu X, Bao X, Yang K, Liao X, Chen H, Fang H, Yang Y, Lyu J, Zheng H
Title
Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features.
