Metabolism Disorder

Urea cycle disorder - An urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea.

GRK3 - In 2003, a group of American and Canadian researchers published a paper that used gene linkage techniques to identify a mutation in the GRK3 gene as a possible cause of up to 10% of cases of bipolar disorder. This gene is associated with a kinase enzyme called G protein receptor kinase 3, which appears to be involved in dopamine metabolism, and may provide a possible target for new drugs for bipolar disorder.

Asterixis - Asterixis is a flapping tremor of the hand that is an early sign of hepatic encephalopathy (damage to brain cells due to toxins not cleared from the blood by the liver). The exact cause of this disorder is not known but it is thought to be caused by abnormal ammonia metabolism.

Glycogen storage disease type II - Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen, a stored form of sugar used for energy. It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932.

metabolismdisorder

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