RGD Reference Report - Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. - Rat Genome Database

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Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

Authors: Schram, AW  Goldfischer, S  Van Roermund, CW  Brouwer-Kelder, EM  Collins, J  Hashimoto, T  Heymans, HS  Van den Bosch, H  Schutgens, RB  Tager, JM 
Citation: Schram AW, etal., Proc Natl Acad Sci U S A. 1987 Apr;84(8):2494-6.
RGD ID: 8554082
Pubmed: (View Article at PubMed) PMID:2882519

We investigated the peroxisomal beta-oxidation system in liver from a patient with clinical features similar to those in the cerebrohepatorenal (Zellweger) syndrome and with elevated levels in body fluids of very-long-chain fatty acids and intermediates in the biosynthesis of bile acids. The peroxisomal beta-oxidation of fatty acids, measured as the cyanide-insensitive formation of [14C]acetyl units from [14C]palmitoyl-CoA, was very low in the patient (less than 10% of the values in control subjects). Immunoblotting experiments using antibodies to peroxisomal beta-oxidation enzymes indicated that peroxisomal 3-oxoacyl-CoA thiolase (acyl-CoA:acetyl-CoA C-acyltransferase, EC 2.3.1.16) was deficient. Addition of purified rat-liver peroxisomal 3-oxoacyl-CoA thiolase to a reaction mixture containing liver homogenate from the patient restored peroxisomal beta-oxidation. We conclude that the deficiency of peroxisomal 3-oxoacyl-CoA thiolase is responsible for the very low peroxisomal beta-oxidation activity and for the accumulation of very-long-chain fatty acids and intermediates in the biosynthesis of bile acids. Furthermore, the finding that both very-long-chain fatty acids and abnormal bile acids accumulate in this patient suggests that a single peroxisomal 3-oxoacyl-CoA thiolase is involved in the oxidative chain shortening of both very-long-chain fatty acids and the coprostanoic acids.



Gene Ontology Annotations    

Biological Process

Molecular Function

Objects Annotated

Genes (Rattus norvegicus)
Acaa1a  (acetyl-CoA acyltransferase 1A)


Additional Information