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February 1974

Cystathioninuria, Mental Retardation, and Juvenile Diabetes Mellitus

Author Affiliations

New York; Memphis
From the Endocrine and Clinical Genetics Divisions, Children's Hospital Medical Center, Harvard Medical School, and the Division of Pediatric Endocrinology and Metabolism, the Brookdale Hospital Medical Center, New York University School of Medicine, New York. Dr. Kang is now with St. Jude Children's Research Hospital, Memphis.

Am J Dis Child. 1974;127(2):250-253. doi:10.1001/archpedi.1974.02110210100015

Primary, vitamin B6-dependent cystathioninuria occurred in a mentally retarded adolescent who had juvenile diabetes mellitus. The patient was homozygous for this disorder, and his parents were heterozygous. No other instance of concurrence of these two diseases was noted on examination of the urine of a small series of 12 patients with diabetes mellitus. This report cites another metabolic abnormality accompanying cystathioninuria. Patients with endocrine disorders and alterations in intellectual development should be screened for this metabolic abnormality.

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