Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 420-422

  Ijlst, L ^a   Oostheim, W ^a   Ruiter, J P N ^a   Wanders, R J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; COMPLEMENTARY DNA; ENOYL COENZYME A HYDRATASE; PROTEIN SUBUNIT;

CODON; CONFERENCE PAPER; ENZYME DEFICIENCY; ENZYME STRUCTURE; GENE MUTATION; HUMAN; MITOCHONDRION; MOLECULAR CLONING;

3-HYDROXYACYL COA DEHYDROGENASES; CODON; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; MULTIENZYME COMPLEXES; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0030808291     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005310903004     Document Type: Conference Paper

References (8)

1. Carpenter K, Pollitt RJ, Middleton B (1992) Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun 183: 443-448.
2. IJ1st L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215: 347-350.
3. IJ1st L, Ushikubo S, Kamijo T, et al (1995) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype. J Inher Metab Dis 18: 241-244.
4. IJ1st L, Ruiter JPN, Hoovers JMN, Jakobs ME, Wanders RJA (1996) Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: characterisation and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localisation of the mitochondrial trifunctional protein α-subunit gene. J Clin Invest 98: 881-1070.
5. Kamijo T, Aoyama T, Komiyama A, Hashimoto T (1994a) Structural analysis of cDNAs for subunits of human mitochondrial fatty acid β-oxidation trifunctional protein. Biochem Biophys Res Commun 199: 818-825.
6. Kamijo T, Wanders RJA, Saudubray JM, Aojama T (1994b) Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. J Clin Invest 93: 1740-1747.
7. Sims HF, Brackett JC, Powell CK, et al (1995) The molecular basis of pediatric long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci USA 92: 841-845.
8. Uchida Y, Izai K, Orii T, Hashimoto T (1992) Novel fatty acid β-oxidation enzymes in rat liver mitochondria II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 267: 1034-1041.