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An Inborn Error of Purine Metabolism Associated With Psychomotor Retardation, Athetosis, and Self-Mutilation

Peter H. Berman, MD; M. Earl Balis, PhD; Joseph Dancis, MD

Arch Neurol. 1969;20(1):44-53.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

RESENT reports have established the existence of a sex-linked, recessive inborn error of purine metabolism in which hyperuricemia and hyperuricosuria are associated with a distinctive clinical syndrome.^1-6 Stunting of growth, retardation of mental and motor development, choreoathetosis, generalized spasticity, and compulsive selfmutilation characterize the clinical defect.^3-6 The metabolic abnormalities have been attributed to a deficiency of the enzyme inosinate phosphoribosy pyrophosphate transferase (IMP:PRPP transferase).⁷ This enzyme mediates the conversion of hypoxanthine to inosinate (hypoxanthine ribosylphosphate), a reaction that permits the reutilization of hypoxanthine for nucleotide synthesis. Since hypoxanthine cannot be reutilized in patients with the disease, whatever hypoxan-thine is formed is either excreted or further catabolized to xanthine and uric acid. The hyperuricemia and hyperuricosuria in these patients also reflect a marked increase in de novo purine synthesis associated with an exceedingly rapid turnover of purine nucleotides.³

In the present report, the results of . . . [Full Text PDF of this Article]

Author Affiliations
New York

From the departments of psychiatry and neurology (Dr. Berman), and pediatrics (Dr. Dancis), New York University Medical Center and the Sloan-Kettering Institute for Cancer Research (Dr. Balis). After April 1, 1969, Dr. Berman will be at Children's Hospital of Philadelphia, Philadelphia.

Footnotes
Submitted for publication July 29, 1968; accepted Aug 19.

Reprint requests to Department of Pediatrics, NYU Medical Center, 550 First Ave, New York 10016 (Dr. Berman).

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