Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

We report on a 16‐year‐old girl with short‐chain L‐3‐hydroxyacyl‐coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile‐onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3‐hydroxy‐dodeca...

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Veröffentlicht in:Annals of neurology 1991-09, Vol.30 (3), p.415-419
Hauptverfasser: Tein, I., De Vivo, D. C., Hale, D. E., Clarke, J. T. R., Zinman, H., Laxer, R., Shore, A., Dimauro, S.
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Sprache:eng
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Zusammenfassung:We report on a 16‐year‐old girl with short‐chain L‐3‐hydroxyacyl‐coenzyme A (CoA) dehydrogenase deficiency resulting in juvenile‐onset recurrent myoglobinuria, hypoketotic hypoglycemic encephalopathy, and hypertrophic/dilatative cardiomyopathy. Urinary organic acids showed traces of 3‐hydroxy‐dodecanedioic acids and small amounts of suberic, sebacic, and adipic acids. There was a marked decrease in L‐3‐hydroxyacyl‐CoA dehydrogenase activity in muscle with acetoacetyl‐CoA as substrate (2.48 μmol/min/gm; normal = 6.90 ± 1.80 μmol/min/gm of tissue; n = 11), contrasting with normal L‐3‐hydroxyacyl‐CoA dehydrogenase activity with 3‐ketooctanoyl‐CoA and 3‐ketopalmitoyl‐CoA as substrates. Short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase activity was normal in fibroblasts, suggesting a tissue‐specific defect.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.410300315