2009 ICD-9-CM Diagnosis Code 277.2
Other disorders of purine and pyrimidine metabolism
- 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.
- An inborn error of metabolism resulting from a deficiency of hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) with increased conversion of glycine to uric acid with excessive purine synthesis and hyperuricemia. Patients are normal at birth but begin to show hypertonicity at about 4 months and irritability and other neurological symptoms become apparent during the second year of life, the child becoming gradually more aggressive and self-destructive, banging his head, biting the lower lip and, less commonly, the upper lip, cheeks, fingers, and hands, sometimes using the fingers to mutilate his ears and nose. Associated disorders include spastic cerebral palsy, choreoathetosis, renal uric acid calculi, gouty tophi, and uric acid nodules. Mental retardation is common but normal intelligence occurs in some cases.
- Short description: PURINE/PYRIMID DIS NEC.
- ICD-9-CM 277.2 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
- You are viewing the 2009 version of ICD-9-CM 277.2.
- More recent version(s) of ICD-9-CM 277.2: 2010 2011 2012 2013.
277.2 Alternative Terminology
277.2 Excludes 
-Applies To
Convert 277.2 to ICD-10-CM
ICD-9-CM Volume 2 Index entries containing back-references to 277.2:
beta-aminoisobutyric (BAIB) 
adenosine deaminase 
