About The Medical Condition Maple Syrup Urine Disease, Intermittent
Find the definition of the medical term Maple Syrup Urine Disease, Intermittent. Maple Syrup Urine Disease, Intermittent defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Maple Syrup Urine Disease, Intermittent
| Maple Syrup Urine Disease, Intermittent Medical Condition |
|---|
What's The Definition Of The Medical Condition Maple Syrup Urine Disease, Intermittent?
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
|
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
- Myopathy, Rod ‐ A group of inherited congenital myopathic conditions characterized…
- Dietary Fat ‐ Fats present in food, especially in animal products such as meat,…
- Radionuclide Angiocardiographies, Equilibrium ‐ Radionuclide ventriculography where scintigraphic data is acquired…
- Acetonide 21-Acetate, Fluocinolone ‐ A topical glucocorticoid used in the treatment…
- Obstructive Hydrocephalus ‐ Excessive accumulation of cerebrospinal fluid within the cranium…
- Glutamyl T RNA Synthetase ‐ An enzyme that activates glutamic acid with its specific transfer…
- Grafts ‐ Organs, tissues, or cells taken from the body for grafting into…
- Muscle Fibers, Red ‐ Skeletal muscle fibers having high myofibrillar ATPase activity,…
- Therapies, Exercise ‐ Motion of the body or its parts to relieve symptoms or to improve…
- Esophageal Diverticuloses ‐ Saccular, outward protrusion of all or a portion of the esophageal…