About The Medical Condition Homocystinuria
Find the definition of the medical term Homocystinuria. Homocystinuria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Homocystinuria
| Homocystinuria Medical Condition |
|---|
What's The Definition Of The Medical Condition Homocystinuria?
An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
|
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
- Acyclovir Sodium ‐ A GUANOSINE analog that acts as an antimetabolite. Viruses are…
- Pyrimidine Dimers ‐ Dimers found in DNA chains damaged by ultraviolet irradiation.…
- Hormonal Agents, Antineoplastic ‐ Antineoplastic agents that are used to treat hormone-sensitive…
- Economo-Type Parkinsonism, Postencephalitic ‐ Parkinsonism following encephalitis, historically seen as a sequella…
- HIV vpr Gene Product ‐ Trans-acting proteins which accelerate virus replication in HIV.…
- Integrated Academic Information Management Systems ‐ A concept, developed in 1983 under the aegis of and supported…
- Effect, Myometrial ‐ The smooth muscle coat of the uterus, which forms the main mass…
- Cu-Zn Superoxide Dismutase ‐ An oxidoreductase that catalyzes the reaction between superoxide…
- History Medicine, Ancient ‐ The period of the history of medicine…
- Erythrocyte Size Determination ‐ Quantification of size and cell hemoglobin content or concentration…