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
- Proline Dehydrogenase ‐ The first enzyme of the proline degradative pathway. It catalyzes…
- Synaptic Vesicle ‐ Membrane-bound compartments which contain transmitter molecules.…
- Mice, Nude ‐ Mutant mice homozygous for the recessive gene "nude" which fail…
- Volumes, Packed Erythrocyte ‐ Measurement of the volume of packed red cells in a blood specimen…
- Drug Combinations ‐ Single preparations containing two or more active agents, for…
- Human Immunodeficiency Virus LTR ‐ Regulatory sequences important for viral replication that are…
- Polyglutamic Acid ‐ A peptide that is a homopolymer of…
- THC ‐ A psychoactive compound extracted from the resin of Cannabis…
- Orobronze ‐ A trans-carotenoid pigment widely distributed in nature. The…
- Healthcare Team ‐ Care of patients by a multidisciplinary team usually organized…