About The Medical Condition Pyruvate Carboxylase Deficiency Disease
Find the definition of the medical term Pyruvate Carboxylase Deficiency Disease. Pyruvate Carboxylase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Pyruvate Carboxylase Deficiency Disease
| Pyruvate Carboxylase Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Pyruvate Carboxylase Deficiency Disease?
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
- Arthroplasties, Replacement, Knee ‐ Replacement of the…
- Soya Oil ‐ Oil from soybean or…
- Tyrosine Aminotransferase ‐ An enzyme that catalyzes the conversion of L-TYROSINE and 2-oxoglutarate…
- Memory Losses, Retrograde ‐ Loss of the ability to recall information that had been previously…
- Deformities, Foot ‐ Alterations or deviations from normal shape or size which result…
- Gas Gangrenes ‐ A severe condition resulting from bacteria invading healthy muscle…
- Neuron, Nitrergic ‐ Nerve cells where transmission is mediated by…
- Teonicol ‐ A vasodilator used in peripheral vascular disorders and insufficiency.…
- Beryllium ‐ Beryllium. An element with the atomic symbol Be, atomic number…
- Hormone Receptors, Nuclear ‐ Proteins in the cytoplasm or nucleus that specifically bind signaling…