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
- Care, Peroperative ‐ Patient care procedures performed during the operation that are…
- IgG2A ‐ The major immunoglobulin in normal…
- Intracranial Extradural Abscesses ‐ Circumscribed collections of suppurative material occurring in…
- Eczema, Atopic ‐ A chronic inflammatory genetically determined disease of the…
- Policy, Pronatalist ‐ A course or method of action selected, usually by a government,…
- Traumatic Myelopathy ‐ Penetrating and non-penetrating injuries to the spinal cord resulting…
- Anencephalias ‐ A malformation of the nervous system caused by failure of the…
- Chai Hu ‐ A plant genus of the family APIACEAE that is the source of bupleurum…
- Neurologic Disorder, Degenerative ‐ Hereditary and sporadic conditions which are characterized by…
- Ability ‐ The ability to acquire general or special types of knowledge…