hypoxanthine guanine phosphoribosyltransferase deficiency
[rare x-linked disorder of purine metabolism, due to deficiency of 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. ( CSP )]
UMLS (CSP) C0023374- Disease or Syndrome
Relation/PAR: Arrieration mentale
purine/pyrimidine metabolism disorder
syndrome
enzyme deficiency
Heredodegenerative Disorders, Nervous System
Brain Diseases, Metabolic, Inborn
purine/pyrimidine metabolism disorder
syndrome
enzyme deficiency
Heredodegenerative Disorders, Nervous System
Brain Diseases, Metabolic, Inborn
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