Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids.
Two siblings with intermittent hypoglycaemia, lethargy and coma associated with fatty infiltration of the liver are reported. Urine contained C6 to C14-dicarboxylic acids.
D000293:Adolescent; D003128:Coma / Q000235:genetics*; D003998:Dicarboxylic Acids / Q000652:urine*; D005227:Fatty Acids / Q000378:metabolism*; D005234:Fatty Liver / Q000235:genetics*; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000235:genetics*; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000235:genetics; D010084:Oxidation-Reduction; D012894:Sleep Stages
D003998:Dicarboxylic Acids; D005227:Fatty Acids