About The Medical Condition Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency
Find the definition of the medical term Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency. Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency
| Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Diseases, Hypoxanthine-Phosphoribosyl-Transferase Deficiency?
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)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Epidermal Necrolysis, Toxic ‐ An exfoliative disease of skin seen primarily in adults and characterized…
- Receptor, Scatter Factor ‐ A cell surface protein-tyrosine kinase receptor for HEPATOCYTE…
- Bretylol ‐ An agent that blocks the release of adrenergic transmitters and…
- Simplex, Diabetic Mononeuropathy ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Impacts, Social ‐ Social process whereby the values, attitudes, or institutions…
- Dopamine Agents ‐ Any drugs that are used for their effects on dopamine receptors,…
- Blood Coagulation Factors ‐ Endogenous substances, usually proteins, that are involved in…
- Chondroitin B Lyase ‐ Enzymes which catalyze the elimination of delta-4,5-D-glucuronate…
- Brainstem Vertigos ‐ An illusion of movement, either of the external world revolving…
- Tympanic Membrane Ruptures ‐ An opening in the tympanic membrane usually caused by trauma.…