Oculocerebrorenal Syndrome

THE oculocerebrorenal syndrome or Lowe's syndrome is a disease characterized by mental retardation, glaucoma, cataract, hypotonia, hyporeflexia, and vitamin D resistant rickets. Biochemical abnormalities of the syndrome include amino-aciduria, decreased ammonia production by the kidney, metabolic acidosis, organic aciduria, proteinuria, and hyperphosphaturia. Since the original description of the syndrome by Lowe and his associates in 1952, 1 more than 50 cases have been reported in the literature. 2 The causative mechanism 1,3 for the metabolic acidosis in the syndrome is a failure in urinary acidification as substantiated by a decreased ammonia production in the kidney in response to the administration of ammonium chloride. The present paper deals with a study on the mechanism responsible for the metabolic acidosis in a typical case of the syndrome. Evidences will be presented that the mechanism responsible for metabolic acidosis in this particular case is not a failure in urinary acidification but that of