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.