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
- NADH Diaphorase ‐ A flavoprotein that catalyzes the reduction of lipoamide by NADH…
- Salazopyrin ‐ A drug that is used in the management of inflammatory bowel diseases.…
- Rite, Funeral ‐ Those customs and ceremonies pertaining to…
- Acid, Triiodobenzoic ‐ Triiodo-substituted derivatives of…
- Selenious Acid ‐ A selenium compound used as a source of SELENIUM, especially…
- Venom, Arachnid ‐ Venoms of arthropods of the order Araneida of the Arachnida.…
- Bladder, Atonic Neurogenic ‐ Dysfunction of the urinary bladder due to disease of the central…
- HPD-ECGF ‐ The enzyme catalyzing the transfer of 2-deoxy-D-ribose from thymidine…
- Anomies ‐ A state of social disorganization and demoralization in society…
- Syndrome, Low T3 ‐ Abnormalities in thyroid hormone and thyroid-stimulating hormone…