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
- Arthroplasties, Replacement, Knee ‐ Replacement of the…
- Soya Oil ‐ Oil from soybean or…
- Tyrosine Aminotransferase ‐ An enzyme that catalyzes the conversion of L-TYROSINE and 2-oxoglutarate…
- Memory Losses, Retrograde ‐ Loss of the ability to recall information that had been previously…
- Deformities, Foot ‐ Alterations or deviations from normal shape or size which result…
- Gas Gangrenes ‐ A severe condition resulting from bacteria invading healthy muscle…
- Neuron, Nitrergic ‐ Nerve cells where transmission is mediated by…
- Teonicol ‐ A vasodilator used in peripheral vascular disorders and insufficiency.…
- Beryllium ‐ Beryllium. An element with the atomic symbol Be, atomic number…
- Hormone Receptors, Nuclear ‐ Proteins in the cytoplasm or nucleus that specifically bind signaling…