Mellituria screening in some metabolic diseases.
Mellituria was studied in 83 subjects: 25 normal adults and children and 58 patients with several metabolic diseases. In comparison to the controls, no significant differences were found in 9 patients with cystinuria and in 2 patients with Apert's syndrome. The large excretion of glucose was the only important pattern of the 11 patients with insulin-dependent diabetes. In 23 patients with porphyria cutanea tarda a statistically significant increase in the excretion of pentose was observed. In 16 children with the classical form of phenylketonuria, a significant hypoexcretion of glucose was found. This latter observation could be explained by the carbohydrate metabolic alterations described in experimental hyperphenylalaninemia.
D000015:Abnormalities, Multiple / Q000652:urine; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003555:Cystinuria / Q000652:urine; D005260:Female; D006029:Glycosuria; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine*; D008875:Middle Aged; D010661:Phenylketonurias / Q000652:urine; D011164:Porphyrias / Q000652:urine; D012016:Reference Values