Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis

J Inherit Metab Dis. 1992;15(3):385-8. doi: 10.1007/BF02435983.

Authors

R J Wanders¹, C W van Roermund, S Brul, R B Schutgens, J M Tager

Affiliation

¹ Department of Pediatrics, University Hospital Amsterdam, The Netherlands.

PMID: 1357231
DOI: 10.1007/BF02435983

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / deficiency*
3-Hydroxyacyl CoA Dehydrogenases / metabolism
Acetyl-CoA C-Acetyltransferase / metabolism
Acyl-CoA Oxidase
Cell Fusion
Cells, Cultured
Enoyl-CoA Hydratase / deficiency*
Enoyl-CoA Hydratase / metabolism
Fibroblasts / enzymology
Humans
Immunoblotting
Infant, Newborn
Isomerases / deficiency*
Isomerases / metabolism
Metabolism, Inborn Errors / enzymology*
Microbodies / enzymology*
Multienzyme Complexes / deficiency*
Multienzyme Complexes / metabolism
Oxidation-Reduction
Oxidoreductases / metabolism
Peroxisomal Bifunctional Enzyme

Substances

Multienzyme Complexes
Oxidoreductases
3-Hydroxyacyl CoA Dehydrogenases
Acyl-CoA Oxidase
Acetyl-CoA C-Acetyltransferase
EHHADH protein, human
Enoyl-CoA Hydratase
Peroxisomal Bifunctional Enzyme
Isomerases