Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

J Inherit Metab Dis. 1995;18(2):241-4. doi: 10.1007/BF00711778.

Authors

L Ijlst¹, S Uskikubo, T Kamijo, T Hashimoto, J P Ruiter, J B de Klerk, R J Wanders

Affiliation

¹ Academic Medical Centre, University Hospital Amsterdam, Department of Pediatric, The Netherlands.

PMID: 7564258
DOI: 10.1007/BF00711778

No abstract available

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / deficiency*
3-Hydroxyacyl CoA Dehydrogenases / genetics
3-Hydroxyacyl CoA Dehydrogenases / metabolism
Acetyl-CoA C-Acyltransferase / metabolism
Adolescent
Base Sequence
Cells, Cultured
Enoyl-CoA Hydratase / metabolism
Female
Fibroblasts / enzymology
Homozygote
Humans
Lipid Metabolism, Inborn Errors / diagnosis*
Lipid Metabolism, Inborn Errors / enzymology
Lipid Metabolism, Inborn Errors / genetics
Mitochondria / enzymology
Mitochondria / metabolism
Mitochondrial Trifunctional Protein
Molecular Sequence Data
Multienzyme Complexes / metabolism
Mutation*
Phenotype

Substances

Multienzyme Complexes
3-Hydroxyacyl CoA Dehydrogenases
Acetyl-CoA C-Acyltransferase
Mitochondrial Trifunctional Protein
Enoyl-CoA Hydratase