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
- Mange ‐ Infestations with arthropods of the subclass ACARI, superorder…
- Disease, Postphlebitic ‐ Post-thrombotic complications, including destruction of the valves…
- Emergency Treatment ‐ First aid or other immediate intervention for accidents or medical…
- Epidemic Acute Poliomyelitis ‐ An acute infectious disease of humans, particularly children,…
- Smegma ‐ A foul-smelling accumulation of SEBUM and desquaminated epidermal…
- Filtration Implants, Glaucoma ‐ Devices, usually incorporating unidirectional valves, which are…
- Diseases, Sclera ‐ General disorders of the sclera or white of the eye. They may…
- Dehydrogenase, NADPH-Dependent Glutamate ‐ An enzyme that catalyzes the conversion of L-glutamate, H2O,…
- Orofacial Dyskinesias, Idiopathic ‐ A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM;…
- Voluntary Male Sterilizations ‐ Procedures for the purpose of rendering individuals incapable…