Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous mutation in the AMACR gene has been described. AMACR deficiency results in accumulation of the R- isomers of pristanic acid as well as a bile acid deficiency.
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
H02099 Alpha-methylacyl-CoA racemase deficiency
5C57 Peroxisomal diseases
H02099 Alpha-methylacyl-CoA racemase deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06021 beta-Oxidation in peroxisome
H02099 Alpha-methylacyl-CoA racemase deficiency
