PEPCK 1 deficiency

PEPCK 1 Deficiency is a rare metabolic disorder characterized by a deficiency in the enzyme phosphoenolpyruvate carboxykinase 1 (PEPCK 1). This enzyme plays a crucial role in gluconeogenesis, the metabolic pathway that allows the liver and kidneys to produce glucose from non-carbohydrate sources. The deficiency leads to various metabolic complications, primarily affecting the body's ability to regulate blood sugar levels.

Symptoms and Diagnosis

The symptoms of PEPCK 1 Deficiency can vary widely among affected individuals but commonly include hypoglycemia (low blood sugar), lactic acidosis, and failure to thrive in infancy. Other potential symptoms may include muscle weakness, developmental delay, and hepatomegaly (enlarged liver).

Diagnosis of PEPCK 1 Deficiency typically involves biochemical tests that measure the activity of the PEPCK 1 enzyme in liver tissue. Genetic testing can also be used to identify mutations in the PEPCK1 gene, which provides instructions for making the enzyme.

Genetics

PEPCK 1 Deficiency is caused by mutations in the PEPCK1 gene, which is located on chromosome 20q13.31. The condition is inherited in an autosomal recessive pattern, meaning that an individual must receive a mutated gene from both parents to be affected.

Treatment

There is no cure for PEPCK 1 Deficiency, and treatment focuses on managing symptoms and preventing complications. This may include dietary management to maintain normal blood sugar levels and avoid fasting. In some cases, individuals may require intravenous glucose during illness or other stressors to prevent hypoglycemia.

Prognosis

The prognosis for individuals with PEPCK 1 Deficiency varies depending on the severity of symptoms and the effectiveness of management strategies. With early diagnosis and appropriate treatment, many individuals can lead relatively normal lives.

See Also

• Gluconeogenesis
• Metabolic disorder
• Hypoglycemia
• Lactic acidosis

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