About The Medical Condition Phenylketonuria, Classical
Find the definition of the medical term Phenylketonuria, Classical. Phenylketonuria, Classical defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylketonuria, Classical
| Phenylketonuria, Classical Medical Condition |
|---|
What's The Definition Of The Medical Condition Phenylketonuria, Classical?
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…