About The Medical Condition Phenylketonuria, Classical
Find the definition of the medical term Phenylketonuria, Classical. Phenylketonuria, Classical defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylketonuria, Classical
| Phenylketonuria, Classical Medical Condition |
|---|
What's The Definition Of The Medical Condition Phenylketonuria, Classical?
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
- Crest, Neural ‐ A strip of specialized ectoderm flanking each side of the embryonal…
- PN-200-110 ‐ A potent antagonist of CALCIUM CHANNELS that is highly selective…
- Antibodies, Allotypic ‐ Hereditary serologic types based on antigenic differences in…
- Photosystem II Reaction Center ‐ A system consisting of proteins and cofactors which facilitates…
- Fatigue, Voice ‐ Disorders of voice pitch, loudness, or quality. Dysphonia refers…
- Drug Combinations, Anticancer ‐ The use of two or more chemicals simultaneously or sequentially…
- Conformation, Protein beta-Sheet ‐ The level of protein structure in which regular hydrogen-bond…
- Stove-in Chest ‐ A complication of multiple rib fractures, rib and sternum fractures,…
- Prenatal Injury ‐ Delayed effects on offspring of maternal or fetal prenatal exposure…
- Rates, Fertility ‐ The number of births in a given population per year or other…