HGPRT deficiency
Lesch nyhan syndrome
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)
An x-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation self-biting of lips, tongue, and fingertips).
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.
E79.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
The 2023 edition of ICD-10-CM E79.1 became effective on October 1, 2022.
This is the American ICD-10-CM version of E79.1 – other international versions of ICD-10 E79.1 may differ.