About The Medical Condition Classical Phenylketonurias
Find the definition of the medical term Classical Phenylketonurias. Classical Phenylketonurias defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Classical Phenylketonurias
Classical Phenylketonurias Medical Condition |
---|
What's The Definition Of The Medical Condition Classical Phenylketonurias?
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
- Synthase, Leukotriene A ‐ An enzyme that catalyzes the oxidation of arachidonic acid to…
- CS1170 ‐ A semisynthetic cephamycin antibiotic with a broad spectrum of…
- IgM ‐ A class of immunoglobulin bearing mu chains (IMMUNOGLOBULINS,…
- Spectroscopy, Near-Infrared ‐ A noninvasive technique that uses the differential absorption…
- Medical Office Buildings ‐ Office and laboratory facilities constructed for the use of physicians…
- Preimplantation Diagnosis ‐ Determination of the nature of a pathological condition or disease…
- Swainsonine, (8 alpha,8a alpha)-Isomer ‐ An indolizidine alkaloid from the plant Swainsona canescens that…
- Diacylglycerol Cholinephosphotransferase ‐ An enzyme that catalyzes the synthesis of phosphatidylcholines…
- Destruction, Thermal ‐ High temperature destruction of waste by burning with subsequent…
- Intensifying Screen, Radiographic ‐ Screens which absorb the energy in the x-ray beam that has penetrated…