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
- Care, Peroperative ‐ Patient care procedures performed during the operation that are…
- IgG2A ‐ The major immunoglobulin in normal…
- Intracranial Extradural Abscesses ‐ Circumscribed collections of suppurative material occurring in…
- Eczema, Atopic ‐ A chronic inflammatory genetically determined disease of the…
- Policy, Pronatalist ‐ A course or method of action selected, usually by a government,…
- Traumatic Myelopathy ‐ Penetrating and non-penetrating injuries to the spinal cord resulting…
- Anencephalias ‐ A malformation of the nervous system caused by failure of the…
- Chai Hu ‐ A plant genus of the family APIACEAE that is the source of bupleurum…
- Neurologic Disorder, Degenerative ‐ Hereditary and sporadic conditions which are characterized by…
- Ability ‐ The ability to acquire general or special types of knowledge…