Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
Neurology
; 52(2): 366-72, 1999 Jan 15.
Article
en En
| MEDLINE
| ID: mdl-9932958
ABSTRACT
OBJECTIVE:
To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy.BACKGROUND:
A 13.5-year-old girl presented with congenital-onset facial and neck weakness, slowly progressive severe limb girdle and axial myopathy, respiratory weakness, cardiomyopathy, progressive joint contractures, lumbar lordosis, progressive external ophthalmoplegia with ptosis, and cataracts. Muscle biopsy at 3 years revealed type I fiber predominance and hypotrophy, multicores with a focal decrease in mitochondria and oxidative enzymes, and internal nuclei. METHODS ANDRESULTS:
Serum carnitine was decreased (total, 18.2 micromol/L; free, 11.7 micromol/L). Urine organic acids intermittently revealed very large amounts of ethylmalonic and methylsuccinic acids intermittently, with elevated butyrylglycine, 2-methylbutyrylglycine, and tiglylglycine. Fibroblast acylcarnitine profiles revealed marked butyrylcarnitine elevation. Electron-transferring flavoprotein-linked reduction enzymatic assay of fibroblasts with butyryl-coenzyme A (CoA) as substrate, after immunoinactivation of medium-chain acyl-CoA dehydrogenase activity, revealed a complete absence of short-chain acyl-CoA dehydrogenase (SCAD) activity. No SCAD protein was detectable with Western blot analysis.CONCLUSIONS:
This patient expands the clinical phenotype of SCAD deficiency and emphasizes the need for its consideration in the differential diagnosis of progressive external ophthalmoplegia and congenital multicore myopathy.
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Banco de datos:
MEDLINE
Asunto principal:
Oftalmoplejía Externa Progresiva Crónica
/
Miopatías Mitocondriales
/
Acil-CoA Deshidrogenasas
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Neurology
Año:
1999
Tipo del documento:
Article
País de afiliación:
Canadá