About The Medical Condition Atypical Phenylketonuria
Find the definition of the medical term Atypical Phenylketonuria. Atypical Phenylketonuria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Atypical Phenylketonuria
| Atypical Phenylketonuria Medical Condition |
|---|
What's The Definition Of The Medical Condition Atypical 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
- Surgeries, Ureteroscopic ‐ Endoscopic examination, therapy or surgery of…
- Gastrin-Releasing Peptide Receptor ‐ Cell surface proteins that bind bombesin or closely related peptides…
- Neoplasms, Sigmoid ‐ Tumors or cancer of…
- Carcinomas, Pancreatic Ductal ‐ Carcinoma that arises from the PANCREATIC DUCTS. It accounts…
- Alcohol-Related Polyneuropathy ‐ A condition where damage to the peripheral nervous system (including…
- Beloniformes ‐ An order of fish in the group SMEGMAMORPHA, comprising adrianichthyids,…
- Wild Animals ‐ Animals considered to be wild or feral or not adapted for domestic…
- Inhibitory G-Protein Gi ‐ A heterotrimeric GTP-binding protein that inhibits adenylate…
- Hazard Models ‐ Statistical models used in survival analysis that assert that…
- Mammary Tumor Viruses, Mouse ‐ The type species of BETARETROVIRUS commonly latent in mice. It…