Absence of common trifunctional protein mutation in patients with Alpers disease

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 828-830

  Yang, Z ^a   Youil, R ^b   Thorburn, D ^b   Chow, C W ^c   Cotton, R G H ^d   Baldwin, G S ^a,e  

^a AUSTIN HOSPITAL   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d ST VINCENT S HOSPITAL   (Australia)

^e NONE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACYLTRANSFERASE; GLUTAMIC ACID; GLUTAMINE; LONG CHAIN FATTY ACID; MUTANT PROTEIN;

ALPER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEGENERATION; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FATTY ACID OXIDATION; FATTY LIVER; HUMAN; INBORN ERROR OF METABOLISM; INTRACTABLE EPILEPSY; LIVER CIRRHOSIS; NEUROMUSCULAR DISEASE; STEATOSIS; VOMITING;

CELLS, CULTURED; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA; FATTY ACIDS; FIBROBLASTS; HUMANS; MULTIENZYME COMPLEXES; MUTATION; OXIDATION-REDUCTION; PALMITIC ACID;

EID: 0030830582     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005332120740     Document Type: Article

References (5)

1. Hording BN, Alsanjari, N, Smith SJM et al (1995) Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. J Neurol Neurosurg Psychiatry 58: 320-325.
2. Huttenlocher PR, Solitare GR, Adams G (1976) Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol 33: 186-192.
3. Ijlst 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.
4. 3H]-myristic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts. J Inher Metab Dis 13: 58-68.
5. Youil R, Kemper BW, Cotton RGH (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc Natl Acad Sci USA 92: 87-91.