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

Journal of Inherited Metabolic Disease

Volumn 18, Issue 2, 1995, Pages 241-244

  Ijlst, L ^a   Uskikubo, S ^b   Kamijo, T ^b   Hashimoto, T ^b   Ruiter, J P N ^a   de Klerk, J B C ^c   Wanders, R J A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; COMPLEMENTARY DNA; GLUTAMIC ACID; GLUTAMINE;

CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; PHENOTYPE; POINT MUTATION;

3-HYDROXYACYL COA DEHYDROGENASES; ACETYL-COA C-ACYLTRANSFERASE; ADOLESCENT; BASE SEQUENCE; CELLS, CULTURED; ENOYL-COA HYDRATASE; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMAN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; PHENOTYPE;

EID: 0029020112     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/BF00711778     Document Type: Article

References (8)

1. Human liver long-chain 3-hydroxyacyl coenzyme A dehydrogenase is a multifunctional membrane-bound β-oxidation enzyme of mitochondria
2. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3. Combined enzyme defect of mitochondrial fatty acid oxidation
4. Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid β-oxidation multienzyme complex
5. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
6. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood
7. Novel fatty acid β-oxidation enzymes in rat liver mitochondria II. Purification and properties of enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketothiolase trifunctional protein
8. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid β-oxidation