Abstract | BACKGROUND: OBJECTIVE: METHODS: RESULTS: Immunoreactivity to VLCAD was absent or markedly reduced in 13 patients. Biochemical analyses confirmed that all these patients had low enzymatic activity and reduced amount of protein. They all had the myopathic phenotype. The authors identified homozygous or compound heterozygous mutations in all of them. All recombinant proteins had reduced enzymatic activity except for 128G>A (G43D) and 796C>G (P266A) mutants, indicating that they are neutral polymorphisms. CONCLUSIONS: The new screening method for the detection of VLCAD deficiency using an immunohistochemical technique identified 13 new Japanese patients with VLCAD deficiency.
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Authors | Y Ohashi, Y Hasegawa, K Murayama, M Ogawa, T Hasegawa, M Kawai, N Sakata, K Yoshida, H Yarita, K Imai, I Kumagai, K Murakami, H Hasegawa, S Noguchi, I Nonaka, S Yamaguchi, I Nishino |
Journal | Neurology
(Neurology)
Vol. 62
Issue 12
Pg. 2209-13
(Jun 22 2004)
ISSN: 1526-632X [Electronic] United States |
PMID | 15210884
(Publication Type: Journal Article)
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Chemical References |
- Acyl-CoA Dehydrogenase, Long-Chain
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Topics |
- Acyl-CoA Dehydrogenase, Long-Chain
(deficiency, genetics)
- Adolescent
- Adult
- Biopsy
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Humans
- Immunoblotting
- Immunohistochemistry
- Male
- Metabolism, Inborn Errors
(diagnosis, genetics, metabolism, pathology)
- Muscle, Skeletal
(metabolism, pathology)
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