Have a symptom?
See what questions
a doctor would ask.
Dictionary » Hypoxanthine-guanine phosphoribosyltranferase deficiency

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 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:

Terms associated with Hypoxanthine-guanine phosphoribosyltranferase deficiency:

Terms Similar to Hypoxanthine-guanine phosphoribosyltranferase deficiency:

Source: Diseases Database

External links related to: Hypoxanthine-guanine phosphoribosyltranferase deficiency

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • Transition Elements
  • Transition metal
  • Transition mutation
  • Transition Temperature
  • Transitional
  • Transitional cell
  • Transitional cell cancer (carcinoma)
  • Transitional cell carcinoma
  • Transitional cell carcinoma (bladder)
  • Transitional cell papilloma
  • Transitional convolution
  • Transitional denture
  • Transitional endoplasmic reticulum (TER)
  • Transitional epithelium

    Find out more

    Search to find out more about Hypoxanthine-guanine phosphoribosyltranferase deficiency:

    powered by

    By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

    Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise