ISSN:
1432-1076
Schlagwort(e):
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase
;
Long-chain acyl carnitine
;
Dietary management
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD), the third enzyme of the mitochondrial β-oxidation pathway, carries out the dehydrogenation of 3-hydroxyacyl-CoA compounds of 12–18 carbon length. To date only nine cases of LCHAD deficiency have been documented. We report a further patient who as a neonate developed non-specific gastro-intestinal symptoms and at 5 months of age cardiomyopathy, recurrent hypoketotic hypoglycaemia and gross alterations of plasma carnitine fractions. Dietary management with medium chain triglycerides led rapidly to clinical improvement. There was a close correlation between the clinical condition, plasma carnitine fractions and cardiac function. At 2 years of age she is developing normally.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF01955905
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