About The Medical Condition Complete HGPRT Deficiency Disease
Find the definition of the medical term Complete HGPRT Deficiency Disease. Complete HGPRT Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Complete HGPRT Deficiency Disease
| Complete HGPRT Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Complete HGPRT Deficiency Disease?
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
- Protein Arginine Methyltransferase ‐ An enzyme that catalyzes the methylation of arginine residues…
- Diiodide, Dequalinium ‐ A topical bacteriostat that is available as various salts. It…
- Grayling ‐ A family of anadromous fish comprising SALMON, TROUT, whitefish,…
- Low-Birth-Weight Infant ‐ An infant having a birth weight of 2500 gm. (5.5 lb.) or less…
- NF-Y Protein ‐ A heterotrimeric DNA-binding protein that binds to CCAAT motifs…
- Synteny ‐ The presence of two or more genetic loci on the same chromosome.…
- Controls, Cost ‐ The containment, regulation, or restraint of costs. Costs are…
- Streptomyces erythraea ‐ A genus of gram-positive bacteria whose spores are round to oval…
- Peptide PHM ‐ A 27-amino acid peptide with histidine at the N-terminal and…
- Systems, Cell-Free ‐ A fractionated cell extract that maintains a biological function.…