About The Medical Condition Lactic Acidosis with Ataxia, Type II
Find the definition of the medical term Lactic Acidosis with Ataxia, Type II. Lactic Acidosis with Ataxia, Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Lactic Acidosis with Ataxia, Type II
| Lactic Acidosis with Ataxia, Type II Medical Condition |
|---|
What's The Definition Of The Medical Condition Lactic Acidosis with Ataxia, Type II?
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
- Neoplasms, Intracranial ‐ Neoplasms of the intracranial components of the central nervous…
- Aujeszky Disease Virus ‐ A species of VARICELLOVIRUS producing a respiratory infection…
- Syndrome, Marchiafava-Micheli ‐ Disorder characterized by intravascular hemolysis and hemoglobinuria.…
- Hydrochloride, Methamphetamine ‐ A central nervous system stimulant and sympathomimetic with actions…
- Tumor, Medullary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Massages, Heart ‐ Rhythmic compression of the heart by pressure applied manually…
- Proximal Renal Tubular Dysfunction ‐ Constellation of clinical and laboratory manifestations produced…
- Bite Force ‐ The force applied by the masticatory muscles in dental…
- HMSN Type IIs ‐ A hereditary motor and sensory neuropathy transmitted most often…
- Drug Recall ‐ Control of drug and narcotic use by international agreement,…