About The Medical Condition Type II Ataxia with Lactic Acidosis
Find the definition of the medical term Type II Ataxia with Lactic Acidosis. Type II Ataxia with Lactic Acidosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type II Ataxia with Lactic Acidosis
| Type II Ataxia with Lactic Acidosis Medical Condition |
|---|
What's The Definition Of The Medical Condition Type II Ataxia with Lactic Acidosis?
An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
|
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
- MAPKK ‐ A serine-threonine protein kinase family whose members are components…
- Factor, Predisposing ‐ The relating of causes to the effects they produce. Causes are…
- Viruses, Lymphoproliferative ‐ A subfamily of HERPESVIRIDAE characterized by variable reproductive…
- Ro 40-5967 ‐ A benzimidazoyl-substituted tetraline that selectively binds…
- Optimum Population ‐ The pattern of any process, or the interrelationship of phenomena,…
- Gene, MDR ‐ Genes responsible for multidrug resistance resulting from their…
- Specialist, Information ‐ Organized services to provide information on any questions an…
- Marker, Serum ‐ Measurable and quantifiable biological parameters (e.g., specific…
- Fixation, Nitrogen ‐ Ability of certain bacteria, fungi, and blue-green algae to convert…
- Thioguanine Hemihydrate ‐ An antineoplastic compound which also has antimetabolite action.…