ISSN:
1432-1076
Schlagwort(e):
Peripheral neuropathy
;
Cardiomyopathy
;
Myopathy
;
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract An 11-month-old girl presented acute episodes of hypoglycaemia and hepatic encephalopathy reminiscent of Reye syndrome and 3-hydroxydicarboxylic aciduria. The patient showed peculiar clinical manifestations of severe sensory-motor neuropathy, pigmentary retinopathy, and cardiomyopathy. She died of cardiac failure. Pathological studies of peripheral nerve showed signs of axonal neuropathy and demyelination. Enzymatic studies in cultured fibroblasts showed a deficiency of mitochondrial long-chain 3-hydroxyacyl-CoA-dehydrogenase. Peripheral nerve involvement and retinal pigmentary degeneration have as yet not been described in patients with proven defects of mitochondrial β-oxidation.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF01958956
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