About The Medical Condition Hyperphenylalaninemias, Non-Phenylketonuric
Find the definition of the medical term Hyperphenylalaninemias, Non-Phenylketonuric. Hyperphenylalaninemias, Non-Phenylketonuric defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hyperphenylalaninemias, Non-Phenylketonuric
| Hyperphenylalaninemias, Non-Phenylketonuric Medical Condition |
|---|
What's The Definition Of The Medical Condition Hyperphenylalaninemias, Non-Phenylketonuric?
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
- Precursor Cell, Erythroid ‐ Committed, erythroid stem cells derived from myeloid stem cells.…
- Glycosyl Ceramidase ‐ The enzyme hydrolyzing glycosyl-N-acylsphingosine to a sugar…
- Agnosia, Tactile ‐ Loss of the ability to comprehend the meaning or recognize the…
- Cevane Alkaloids ‐ Structurally-related alkaloids that contain the cevane carbon…
- Craniomandibular Disorders ‐ Diseases or disorders of the muscles of the head and neck, with…
- Intra-Osseous Ganglion ‐ Benign unilocular lytic areas in the proximal end of a long bone…
- Ecological Monitoring ‐ The monitoring of the level of toxins, chemical pollutants, microbial…
- Ligase, Ile-tRNA ‐ An enzyme that activates isoleucine with its specific transfer…
- Administrations, Rectal ‐ The insertion of drugs into the rectum, usually for confused…
- Orthodontic Appliance Design ‐ The planning, calculation, and creation of an apparatus for the…