About The Medical Condition Ketoacidurias, Branched-Chain
Find the definition of the medical term Ketoacidurias, Branched-Chain. Ketoacidurias, Branched-Chain defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Ketoacidurias, Branched-Chain
Ketoacidurias, Branched-Chain Medical Condition |
---|
What's The Definition Of The Medical Condition Ketoacidurias, Branched-Chain?
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
- Reticulosis, Histiocytic Medullary ‐ A rare, usually rapidly progressive disorder, characterized by…
- Nitroxidergic Neuron ‐ Nerve cells where transmission is mediated by…
- Pancreatic Diversion, Bilio ‐ A surgical procedure which diverts pancreatobiliary secretions…
- Islet Cell Tumor, Malignant ‐ A carcinoma of the islets of…
- Impression Technics, Dental ‐ Procedure of producing an imprint or negative likeness of the…
- Activities, Locomotor ‐ The physical activity of an organism as a behavioral…
- Benzilate, Quinuclidinyl ‐ A high-affinity muscarinic antagonist commonly used as a tool…
- Unwanted Pregnancies ‐ Pregnancy, usually accidental or unplanned, that is not desired…
- Japanese Quail ‐ A genus of birds (family Phasianidae) containing the common European…
- Rate, Fetal Heart ‐ The heart rate of the fetus. The normal range at term is between…