About The Medical Condition Phenylketonuria I
Find the definition of the medical term Phenylketonuria I. Phenylketonuria I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylketonuria I
| Phenylketonuria I Medical Condition |
|---|
What's The Definition Of The Medical Condition Phenylketonuria I?
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
- Dupre Syndrome ‐ A condition characterized by neck stiffness, headache, and other…
- Socialism ‐ A system of government in which means of production and distribution…
- Oxyquinoline ‐ An antiseptic with mild fungistatic, bacteriostatic, anthelmintic,…
- Surgery, Cosmetic ‐ The branch of surgery concerned with restoration, reconstruction,…
- Orthophosphate Dikinase Pyruvate ‐ An enzyme that catalyzes the reaction of ATP, pyruvate, and orthophosphate…
- Histamine H3 Receptor Agonists ‐ Drugs that bind to and activate histamine receptors. Although…
- IAP Pertussis Toxin ‐ Any of various biologically active proteins or toxins elaborated…
- Separation Anxiety ‐ Anxiety experienced by an individual upon separation from a person…
- Alpha, PGF2 ‐ A naturally occuring prostaglandin that has oxytocic, luteolytic,…
- Fundulidae ‐ Family of small, surface-dwelling fish that inhabit fresh and…