About The Medical Condition Intermediate Maple Syrup Urine Disease
Find the definition of the medical term Intermediate Maple Syrup Urine Disease. Intermediate Maple Syrup Urine Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Intermediate Maple Syrup Urine Disease
| Intermediate Maple Syrup Urine Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Intermediate 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
- NADH Diaphorase ‐ A flavoprotein that catalyzes the reduction of lipoamide by NADH…
- Salazopyrin ‐ A drug that is used in the management of inflammatory bowel diseases.…
- Rite, Funeral ‐ Those customs and ceremonies pertaining to…
- Acid, Triiodobenzoic ‐ Triiodo-substituted derivatives of…
- Selenious Acid ‐ A selenium compound used as a source of SELENIUM, especially…
- Venom, Arachnid ‐ Venoms of arthropods of the order Araneida of the Arachnida.…
- Bladder, Atonic Neurogenic ‐ Dysfunction of the urinary bladder due to disease of the central…
- HPD-ECGF ‐ The enzyme catalyzing the transfer of 2-deoxy-D-ribose from thymidine…
- Anomies ‐ A state of social disorganization and demoralization in society…
- Syndrome, Low T3 ‐ Abnormalities in thyroid hormone and thyroid-stimulating hormone…