About The Medical Condition Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Find the definition of the medical term Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease. Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
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What's The Definition Of The Medical Condition Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease?
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
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