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
- Fats, Artificial ‐ Compounds used in food or in food preparation to replace dietary…
- Pupil, Neuropathic Tonic ‐ A pupillary abnormality characterized by a poor pupillary light…
- Feline Coronavirus ‐ A species of CORONAVIRUS infecting cats of all ages and commonly…
- Antigens, CD18 ‐ Cell-surface glycoprotein beta-chains that are non-covalently…
- Pseudoneurotic Schizophrenias ‐ A personality disorder in which there are oddities of thought…
- Infratentorial Neoplasms ‐ Intracranial tumors originating in the region of the brain inferior…
- Dressing, Amniotic Membrane ‐ Human or animal tissue used as temporary wound…
- Pellets, Drug ‐ Small containers or pellets of a solid drug implanted in the…
- Workmans Compensation ‐ Insurance coverage providing compensation and medical benefits…
- Dichloromethyl Ether ‐ A substance that is an irritant to the eyes and respiratory tract…