About The Medical Condition Thiamine Responsive Maple Syrup Urine Disease
Find the definition of the medical term Thiamine Responsive Maple Syrup Urine Disease. Thiamine Responsive Maple Syrup Urine Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Thiamine Responsive Maple Syrup Urine Disease
| Thiamine Responsive Maple Syrup Urine Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Thiamine Responsive Maple Syrup Urine Disease?
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
- Hospitals, Proprietary ‐ Hospitals owned and operated by a corporation or an individual…
- Myxedemas, Congenital ‐ A condition due to congenital lack of thyroid hormone, marked…
- Ketosuccinates ‐ Salts and esters of…
- Cross Reaction ‐ Serological reactions in which an antiserum against one antigen…
- Venoms, Scorpion ‐ Venoms from animals of the order Scorpionida of the class Arachnida.…
- Neoplasms, Ureter ‐ Cancer or tumors of the URETER. Hematuria, which occurs in 75%…
- Antagonists, Blood Platelet ‐ Drugs or agents which antagonize or impair any mechanism leading…
- Carminomicin ‐ A very toxic anthracycline-type antibiotic related to DAUNORUBICIN,…
- Elbow, Tennis ‐ A condition characterized by pain in or near the lateral humeral…
- Tryptan ‐ An essential amino acid that is necessary for normal growth in…