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
- PPD ‐ A protein extracted from boiled culture of tubercle bacilli (MYCOBACTERIUM…
- Cetiprin ‐ A muscarinic antagonist used mainly in the treatment of urinary…
- Desensitizations (Psychology) ‐ A behavior therapy technique in which deep muscle relaxation…
- Thrombin Time ‐ Test of the conversion of fibrinogen to fibrin by thrombin in…
- Dysgenesis, Gonadal ‐ A number of syndromes with defective gonadal developments such…
- Body Language ‐ Systematic study of the body and the use of its static and dynamic…
- Enteropathy, Protein-Losing ‐ A series of gastrointestinal disorders which share in common…
- Education ‐ Acquisition of knowledge as a result of instruction in a formal…
- Bile Duct Obstruction, Intrahepatic ‐ Intrahepatic impairment of bile flow. It is usually due to liver…
- Dibekacin Sulfate ‐ Analog of KANAMYCIN with antitubercular as well as broad-spectrum…