| Autor: |
Sewell, A., Bender, S., Wirth, S., Münterfering, H., Ijlist, L., Wanders, R., Sewell, A C, Bender, S W, Münterfering, H, Wanders, R J |
| Zdroj: |
European Journal of Pediatrics; 1994, Vol. 153 Issue 10, p745-750, 6p |
| Abstrakt: |
3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. We present a further patient who presented with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency and increased plasma long-chain acylcarnitines. 3-Hydroxydicarboxylic aciduria was present and the diagnosis confirmed in cultured skin fibroblasts. Our patient is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and possible therapeutic regimens. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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