About The Medical Condition Phenylketonuria Is
Find the definition of the medical term Phenylketonuria Is. Phenylketonuria Is defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylketonuria Is
Phenylketonuria Is Medical Condition |
---|
What's The Definition Of The Medical Condition Phenylketonuria Is?
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
- Mortuary Practice ‐ Activities associated with the physical burial of the dead. It…
- Atherectomy, Directional Coronary ‐ Percutaneous transluminal procedure for removing atheromatous…
- Metabolic Clearance Rates ‐ Volume of biological fluid completely cleared of drug metabolites…
- Heart Septal Defects, Ventricular ‐ Congenital defects in the septum between the cardiac ventricles,…
- Organ Donations ‐ The administrative procedures involved with acquiring organs…
- Computings, Bedside ‐ Laboratory and other services provided to patients at the bedside.…
- Chloromercuribenzene-p-sulphonic Acid ‐ A cytotoxic sulfhydryl reagent that inhibits several subcellular…
- HMG-1 Protein ‐ A 24 kD HMGB protein that binds to and distorts the minor grove…
- False Memory Syndrome ‐ The active mental process of keeping out and ejecting, banishing…
- Dioxins ‐ Chlorinated hydrocarbons containing heteroatoms that are present…