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
- Intraoral Photography ‐ Photographic techniques used in orthodontics, aesthetic dentistry,…
- Cerebellar Syndromes, Paraneoplastic ‐ Cerebellar degeneration associated with a remote neoplasm. Clinical…
- Cytotaxins ‐ Chemical substances that attract or repel cells or organisms.…
- Seizures, Subclinical ‐ Conditions characterized by recurrent paroxysmal neuronal discharges…
- Intraocular Lens ‐ Artificial…
- Soybean Proteins ‐ Proteins which are present in or isolated from…
- Pupil Disorders ‐ Conditions which affect the structure or function of the pupil…
- Dicrocoeliasis ‐ Infection with flukes of the genus…
- Immunolabeling Techniques ‐ Histochemical localization of immunoreactive substances using…
- Infections, Bunyaviridae ‐ Virus diseases caused by the…