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.
Hagenfeldt
L
L
Department of Clinical Chemistry, Huddinge University Hospital, Sweden.
von Döbeln
U
U
Holme
E
E
Alm
J
J
Brandberg
G
G
Enocksson
E
E
Lindeberg
L
L
D003998:Dicarboxylic Acids / Q000378:metabolism* / Q000652:urine; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors; D008297:Male; D010084:Oxidation-Reduction; D011379:Prognosis
D003998:Dicarboxylic Acids