About The Medical Condition Branched-Chain Ketoaciduria
Find the definition of the medical term Branched-Chain Ketoaciduria. Branched-Chain Ketoaciduria defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Branched-Chain Ketoaciduria
| Branched-Chain Ketoaciduria Medical Condition |
|---|
What's The Definition Of The Medical Condition Branched-Chain Ketoaciduria?
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
- Intraoral Photography ‐ Photographic techniques used in orthodontics, aesthetic dentistry,…
- Cerebellar Syndromes, Paraneoplastic ‐ Cerebellar degeneration associated with a remote neoplasm. Clinical…
- Cytotaxins ‐ Chemical substances that attract or repel cells or organisms.…
- Seizures, Subclinical ‐ Conditions characterized by recurrent paroxysmal neuronal discharges…
- Intraocular Lens ‐ Artificial…
- Soybean Proteins ‐ Proteins which are present in or isolated from…
- Pupil Disorders ‐ Conditions which affect the structure or function of the pupil…
- Dicrocoeliasis ‐ Infection with flukes of the genus…
- Immunolabeling Techniques ‐ Histochemical localization of immunoreactive substances using…
- Infections, Bunyaviridae ‐ Virus diseases caused by the…