A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.
A new patient with medium-chain dicarboxylic aciduria and suberyl glycinuria during an attack of acute illness is reported. When, inadvertently he was given medium-chain triglycerides for 2 days, the excretion of abnormal metabolites of medium-chain fatty acids increased and hepatomegaly became more pronounced. During remission a low excretion of the metabolites were observed. After 16 h of fasting hypoglycaemia was accompanied by an increase of urinary dicarboxylic acids and psi-hydroxyacids similar to that found on admission. Interestingly this urinary organic acid pattern persisted 8 h after intravenous administration of glucose. In a blood sample obtained after 16 h of fasting there was hypoketonaemia and increased levels of total free fatty acids, octanoic, decanoic and cis-4-decenoic acids. These biochemical data suggest the existence of a deficiency at the level of medium-chain acyl-CoA dehydrogenase.
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D001786:Blood Glucose / Q000378:metabolism; D002210:Caprylates; D002675:Child, Preschool; D003998:Dicarboxylic Acids / Q000652:urine*; D004041:Dietary Fats / Q000008:administration & dosage; D005215:Fasting; D005998:Glycine / Q000652:urine; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D007003:Hypoglycemia / Q000209:etiology; D008297:Male; D012202:Reye Syndrome / Q000209:etiology*
D001786:Blood Glucose; D002210:Caprylates; D003998:Dicarboxylic Acids; D004041:Dietary Fats; D006880:Hydroxy Acids; C005738:suberic acid; D044944:Acyl-CoA Dehydrogenases; D005998:Glycine