About The Medical Condition Phenylalanine Hydroxylase Deficiency Disease, Severe
Find the definition of the medical term Phenylalanine Hydroxylase Deficiency Disease, Severe. Phenylalanine Hydroxylase Deficiency Disease, Severe defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylalanine Hydroxylase Deficiency Disease, Severe
Phenylalanine Hydroxylase Deficiency Disease, Severe Medical Condition |
---|
What's The Definition Of The Medical Condition Phenylalanine Hydroxylase Deficiency Disease, Severe?
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
- Diverticulums, Esophagopharyngeal ‐ A diverticulum at the upper end of the esophagus through the…
- UDPGNAc ‐ Serves as the biological precursor of insect chitin, of muramic…
- Antibodies, Enhancing ‐ Antibodies that inhibit the reaction between antigen and other…
- BFU-E ‐ Committed, erythroid stem cells derived from myeloid stem cells.…
- Chemicals, Agricultural ‐ Chemicals used in agriculture. These include pesticides, fumigants,…
- Particle, Beta ‐ A stream of positive or negative electrons ejected with high…
- Resistance Gene, Multidrug ‐ Genes responsible for multidrug resistance resulting from their…
- Cytokeratin 8 ‐ A class of fibrous proteins or scleroproteins important both…
- Synthetase, S-Adenosylmethionine ‐ An enzyme that catalyzes the synthesis of S-adenosylmethionine…
- AHR-1911 ‐ Proposed topical anti-inflammatory agent that may release histamine…