About The Medical Condition Is, Phenylketonuria
Find the definition of the medical term Is, Phenylketonuria. Is, Phenylketonuria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Is, Phenylketonuria
| Is, Phenylketonuria Medical Condition |
|---|
What's The Definition Of The Medical Condition Is, 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
- Woman Rights ‐ The rights of women to equal status pertaining to social, economic,…
- Neurotheceomas ‐ A benign myxoma of cutaneous nerve sheath origin. Theke is from…
- Atrial Natriuretic Factor Receptors ‐ Cell surface proteins that bind atrial natriuretic factor with…
- Estrone, (+-)-Isomer ‐ A metabolite of estradiol but possessing less biological activity.…
- Television ‐ The transmission and reproduction of transient images of fixed…
- Abnormalities, Musculoskeletal ‐ Congenital structural abnormalities and deformities of the musculoskeletal…
- Juvenile Periodontitis ‐ Localized periodontitis in teenagers and young adults. The onset…
- Mammoplasties ‐ Surgical reconstruction of the breast including both augmentation…
- Gamma-Tocopherol ‐ A natural tocopherol with less antioxidant activity than ALPHA-TOCOPHEROL.…
- PGE1 ‐ A potent vasodilator agent that increases peripheral blood flow.…