About phosphoenolpyruvate carboxykinase

What is phosphoenolpyruvate carboxykinase?

PEPCK deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait. A deficiency of the enzyme phosphoenolpyruvate carboxykinase (PEPCK), which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an excess of acid in the circulating blood (acidemia). Characteristics of this disorder are low blood sugar (hypoglycemia), loss of muscle tone, liver enlargement and impairment, and failure to gain weight and grow normally.

What are the symptoms for phosphoenolpyruvate carboxykinase?

"Extremely rare disorder PEPCK deficiency is characterized by episodes of low blood sugar (hypoglycemia). It is a condition of carbohydrate metabolism brought on by a lack of the PEPCK enzyme, also known as phosphoenolpyruvate carboxykinase. During periods of fasting, this enzyme typically engages in a process known as gluconeogenesis in which proteins and lipids are converted to glucose. The human body uses glucose as its source of energy. The genetics of PEPCK deficiency is autosomal recessive. PEPCK1 deficiency (cytosolic) and PEPCK2 deficiency are the two types of PEPCK deficiency (mitochondrial). Both variations show a hereditary lack of the PEPCK enzymes. These enzymes are a part of the gluconeogenesis process, which is predominantly carried out in the liver and involves the conversion of proteins and lipids to glucose. When dietary glucose intake is insufficient, such as during a fast, or when extra energy is required, such as during prolonged periods of vigorous activity, this mechanism is triggered. The body needs glucose for energy and the proper operation of numerous organs and systems, including the brain. Avoiding fasting and consuming more carbs when exercising, unwell, or at other times when the body needs extra energy sources are the main treatments for this disease. Proper diagnosis can help in avoiding serious health complications Cause: Mutation in PCK1 and PCK2 genes Symptoms: Low blood sugar level (hypoglycemia) during periods Drowsiness and disorientation Hypoglycemia (loss of consciousness ). Hypotonia (loss of muscle tone), Hepatomegaly (abnormal liver enlargement), Vomiting and Nausea. Drugs: 3-Mercaptopicolinic acid"

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