Lowe's syndrome

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Abstract
A 1-year-old male with Lowe''s syndrome had psychomotor retardation, cataracts, areflexia, generalized aminoaciduria, rickets, and metabolic acidosis. Infantile spasms were among the presenting features and did not respond to corticosteriod therapy. Sulfate loading studies indicated impaired ability to acidify the urine. Bicarbonate therapy did not correct the acidosis, and the patient died at 18 months (of undetermined cause). Postmortem examination revealed no pathological changes in the brain or lumbar portion of the spinal cord, and there were no specific pathological changes elsewhere. Amino acid 10031 [1966] METABOLISM 116020-116028 studies were conducted in the patient, his parents, and in a 21-year-old female with Wilson''s disease, in whom a renal lesion comparable to that of the patient with Lowe''s syndrome was presumed to exist. The lack of uniformity in the amino acid excretion patterns, the generalized increase in aminoaciduria after the ingestion of various different amino acids, and the similarity of response to ornithine loading in the patient with Lowe''s syndrome, his mother, and the patient with Wilson''s disease suggest that the abnormal response to amino acid loading is due to the renal lesion and not to impaired metabolism of a specific amino acid.

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