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Severe hyperhomocysteinemia due to cystathionine beta-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, approximately 50% have suffered a thromboembolic event by 30 years of age. We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation. These(More)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (McKusick 20145) is the most common inherited defect of the ß-oxidation of fatty acid (Roe and Coates, 1989). It causes life-threatening attacks of hypoglycaemia and lethargy, and has led to sudden infant death in apparently asymptomatic children. It is therefore important to diagnose the enzyme(More)
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