About The Medical Condition Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency
Find the definition of the medical term Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency. Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency
| Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency Medical Condition |
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What's The Definition Of The Medical Condition Disease, Hypoxanthine-Phosphoribosyl-Transferase Deficiency?
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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