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.
Lou X, Zhou X, Li H, Lu X, Bao X, Yang K, Liao X, Chen H, Fang H, Yang Y, Lyu J, Zheng H
タイトル
Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features.
