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
- Nursing Administration Researchs ‐ Research concerned with establishing costs of nursing care, examining…
- Ion-Exchange Chromatography ‐ Separation technique in which the stationary phase consists of…
- Disease, Slow Virus ‐ Diseases of viral origin, characterized by incubation periods…
- Tenox BHA ‐ Mixture of 2- and 3-tert-butyl-4-methoxyphenols that is used…
- PrP (CJD) ‐ Abnormal isoform of prion proteins (PRIONS) resulting from a…
- Periodontal Pockets ‐ An abnormal extension of a gingival sulcus accompanied by the…
- Puncture Headache, Postdural ‐ Pain in the cranial region that may occur as an isolated and…
- Sexual Partner ‐ Married or single individuals who share sexual…
- Drusen, Optic Nerve ‐ Optic disk bodies composed primarily of acid mucopolysaccharides…
- Pipecuronium Dibromide, (3 beta)-Isomer ‐ A non-depolarizing neuromuscular blocking agent used during halothane…