About The Medical Condition IIs, Phenylketonuria
Find the definition of the medical term IIs, Phenylketonuria. IIs, Phenylketonuria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
IIs, Phenylketonuria
| IIs, Phenylketonuria Medical Condition |
|---|
What's The Definition Of The Medical Condition IIs, Phenylketonuria?
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
- Proteins, Encephalitogenic Basic ‐ A group of 7 proteins produced from a single gene by alternate…
- Dicarboxylate Carrier ‐ A family of ORGANIC ION TRANSPORTERS that specifically transport…
- Brainstem Neoplasms, Primary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Long-Term Care Insurance ‐ Health insurance to provide full or partial coverage for long-term…
- Unilateral Headache ‐ Pain in the cranial region that may occur as an isolated and…
- Postoperative Pains ‐ Pain during the period…
- Platelet Transforming Growth Factor ‐ A factor synthesized in a wide variety of tissues. It acts synergistically…
- Frontal Gait ‐ Gait abnormalities that are a manifestation of nervous system…
- Compression, Spinal Cord ‐ Acute and chronic conditions characterized by external mechanical…
- Disturbances, Menstruation ‐ Variations of menstruation which may be indicative…