About The Medical Condition Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases
Find the definition of the medical term Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases. Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases
| Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases Medical Condition |
|---|
What's The Definition Of The Medical Condition Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases?
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
- Osteolysis, Essential ‐ Syndromes of bone destruction where the cause is not obvious…
- Sleeplessness ‐ Disorders characterized by impairment of the ability to initiate…
- Neuropathies, Tangier Hereditary ‐ A rare autosomal recessive familial disorder of cholesterol metabolism,…
- Polybutyl Cyanoacrylate ‐ A tissue adhesive that is applied as a monomer to moist tissue…
- Self-Referral, Physician ‐ Referral by physicians to testing or treatment facilities in…
- Spikenard ‐ A plant genus in the family ARALIACEAE, order Apiales, subclass…
- Stress Fracture ‐ Fractures due to the strain caused by repetitive exercise. They…
- Eczema, Contact ‐ A type of acute or chronic skin reaction in which sensitivity…
- Dental Pins ‐ Small cylindrical pieces of metal used to enhance…
- Epidermolysis Bullosa Simplex Kobner ‐ Form of epidermolysis bullosa characterized by autosomal dominant…