Hypoxanthine-guanine phosphoribosyltranferase deficiency

Introduction: Hypoxanthine-guanine phosphoribosyltranferase deficiency

Description of Hypoxanthine-guanine phosphoribosyltranferase deficiency

Hypoxanthine-guanine phosphoribosyltranferase deficiency: 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.
Source: Diseases Database

Hypoxanthine-guanine phosphoribosyltranferase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Hypoxanthine-guanine phosphoribosyltranferase deficiency:

• Hypoxanthine
• Guanine
• Deficiency
• Deficiency disease
• Inborn
• Error
• Metabolism
• Metabolism disorder

Terms associated with Hypoxanthine-guanine phosphoribosyltranferase deficiency:

Terms Similar to Hypoxanthine-guanine phosphoribosyltranferase deficiency:

• Lesch-Nyhan syndrome

Source: Diseases Database

External links related to: Hypoxanthine-guanine phosphoribosyltranferase deficiency

• GeneReviews: Lesch-Nyhan Syndrome
• Lesch-Nyhan syndrome - Genetics Home Reference
• Search Jablonski's Syndromes Database
• Lesch-Nyhan syndrome or disease (www.whonamedit.com)
• eMedicine - Lesch-Nyhan Syndrome : Article by Hyder A Jinnah, MD, PhD
• OMIM - HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1

Source: Diseases Database

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