3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

We describe five patients with a suspected defect in the beta-oxidation of fatty acids characterized by a massive excretion of 3-hydroxydicarboxylic acids in the urine and accumulation of 3-hydroxy fatty acids in serum during acute illness. Long-chain and medium-chain acyl-coenzyme A dehydrogenases in fibroblasts were normal in all patients. Four of them died of cardiomyopathy and liver insufficiency at 3 to 14 months of age. Two of the patients had elder siblings who had died unexpectedly in early infancy. These patients differ from previously described patients with beta-oxidation defects.

Combined deficiency of coagulation factors II, VII, IX, and X: a case of probable congenital origin.

Combined deficiency of coagulant activity of the vitamin K-dependent factors was found in a 14-year-old boy suffering from severe hemorrhages. Immunoassays revealed the presence of acarboxyprothrombin. The bleedings could be controlled, but the coagulation defects persisted during more than 2 years' follow-up and could not be corrected by oral or parenteral vitamin K. No intoxication or underlying disease was found. The abnormality was considered a congenital disorder of the carboxylation of prothrombin.