About The Medical Condition Phenylketonuria II
Find the definition of the medical term Phenylketonuria II. Phenylketonuria II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylketonuria II
Phenylketonuria II Medical Condition |
---|
What's The Definition Of The Medical Condition Phenylketonuria II?
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
|
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
- Viruses, Tumor ‐ Viruses that…
- Bis(Phenol A-Glycydyl Methacrylate) ‐ The reaction product of bisphenol A and glycidyl methacrylate…
- Pregnanes ‐ Saturated derivatives of the steroid pregnane. The 5-beta series…
- Arenaviruses, Old World ‐ One of two groups of viruses in the ARENAVIRUS genus and considered…
- Enteroglucagon ‐ Glucagon-like polypeptide secreted in the intestinal tract. It…
- Dystrophies, Myotonic ‐ An autosomal dominant neuromuscular disorder which usually presents…
- Taractan ‐ A thioxanthine with effects similar to the phenothiazine…
- Paroxetine Acetate ‐ A serotonin uptake inhibitor that is effective in the treatment…
- Pesticide Residues ‐ Pesticides or their breakdown products remaining in the environment…
- Oxidation-Reduction ‐ A chemical reaction in which an electron is transferred from…