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2007 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 > Other And Unspecified Disorders Of Metabolism 277.* > 2007 ICD-9-CM Diagnosis 277.2 Other disorders of purine and pyrimidine metabolism This code may be outdated. View the most recent version of ICD-9-CM 277.2 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. 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) 277.2 is a specific code that can be used to specify a diagnosis 277.2 contains 20 index entries View the ICD-9-CM Volume 1 277.* hierarchy 277.2 also known as: Hypoxanthine-guanine-phosphoribosyltransferase deficiency [HG-PRT deficiency] Lesch-Nyhan syndrome Xanthinuria 277.2 excludes: gout (274.0-274.9) orotic aciduric anemia (281.4) Index entries containing 277.2: Aciduria 791.9 beta-aminoisobutyric (BAIB) 277.2 Beta-aminoisobutyric aciduria 277.2 Deficiency, deficient adenosine deaminase 277.2 HG-PRT 277.2 hypoxanthine-guanine phosphoribosyltransferase (HG-PRT) 277.2 PRT 277.2 purine nucleoside phosphorylase 277.2 Disorder - see also Disease amino acid (metabolic) (see also Disturbance, metabolism, amino acid) 270.9 beta-amino-isobutyricaciduria 277.2 purine NEC 277.2 pyrimidine NEC 277.2 xanthinuria 277.2 metabolism NEC 277.9 purine 277.2 pyrimidine 277.2 purine metabolism NEC 277.2 pyrimidine metabolism NEC 277.2 Lesch-Nyhan syndrome (hypoxanthine-guanine-phosphoribosyltransferase deficiency) 277.2 Stone(s) - see also Calculus xanthine 277.2 Syndrome - see also Disease Lesch-Nyhan (hypoxanthine-guanine-phosphroibosyltransferase deficiency) 277.2 Xanthine stones 277.2 Xanthinuria 277.2