Phosphoenolpyruvate carboxykinase 1 deficiency

Phosphoenolpyruvate Carboxykinase 1 (PEPCK1) Deficiency

Phosphoenolpyruvate Carboxykinase 1 (PEPCK1) deficiency is a rare metabolic disorder characterized by an impairment in the ability of the body to properly convert certain substances into glucose. This condition falls under the broader category of glycogen storage diseases, which affect the process by which energy is stored and used in the body.

Overview

PEPCK1 is an enzyme critical in the process of gluconeogenesis, the metabolic pathway that results in the generation of glucose from non-carbohydrate substrates. It catalyzes the conversion of oxaloacetate to phosphoenolpyruvate (PEP), a key step in the production of glucose. Deficiency in PEPCK1 disrupts this pathway, leading to hypoglycemia and other related symptoms.

Causes

The deficiency is caused by mutations in the PEPCK1 gene, which provides instructions for making the enzyme. These mutations are inherited in an autosomal recessive pattern, meaning that an individual must receive a mutated gene from both parents to be affected by the condition.

Symptoms

Symptoms of PEPCK1 deficiency can vary but often include:

• Hypoglycemia (low blood sugar)
• Lactic acidosis
• Failure to thrive in infancy
• Difficulty in gaining weight
• Muscle weakness

Diagnosis

Diagnosis of PEPCK1 deficiency typically involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests may show low levels of glucose and elevated levels of lactate in the blood. Genetic testing can confirm the presence of mutations in the PEPCK1 gene.

Treatment

There is no cure for PEPCK1 deficiency, but treatment focuses on managing symptoms and preventing hypoglycemia. This may involve:

• Frequent carbohydrate-rich meals
• Cornstarch supplements to help maintain blood sugar levels
• Avoidance of fasting

Prognosis

The prognosis for individuals with PEPCK1 deficiency varies depending on the severity of the condition and the effectiveness of the management strategies. With appropriate treatment, individuals can manage symptoms and lead relatively normal lives.

See Also

• Glycogen storage disease
• Gluconeogenesis
• Hypoglycemia
• Lactic acidosis

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