PEPCK 2 deficiency

PEPCK 2 deficiency is a rare metabolic disorder characterized by a deficiency in the enzyme phosphoenolpyruvate carboxykinase 2 (PEPCK 2). 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, including hypoglycemia and lactic acidosis.

Overview

Phosphoenolpyruvate carboxykinase (PEPCK) is an enzyme essential for the process of gluconeogenesis, which is critical for maintaining stable blood sugar levels during fasting. There are two isoforms of PEPCK: PEPCK 1, located in the mitochondria, and PEPCK 2, found in the cytosol. PEPCK 2 deficiency specifically refers to a lack or malfunction of the cytosolic form of the enzyme.

Causes

PEPCK 2 deficiency is caused by mutations in the PCK1 gene, which encodes the PEPCK 2 enzyme. These mutations lead to either a reduction in enzyme activity or the production of a non-functional enzyme. The genetic transmission of this condition is typically autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

The symptoms of PEPCK 2 deficiency can vary widely among affected individuals but commonly include:

• Hypoglycemia (low blood sugar)
• Lactic acidosis (buildup of lactic acid in the body)
• Failure to thrive in infancy
• Growth retardation
• Muscle weakness
• Hepatomegaly (enlarged liver)

Diagnosis

Diagnosis of PEPCK 2 deficiency involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests may reveal low blood sugar levels, high levels of lactic acid, and other anomalies in metabolic profiles. Genetic testing can confirm the presence of mutations in the PCK1 gene.

Treatment

There is no cure for PEPCK 2 deficiency, and treatment focuses on managing symptoms and preventing metabolic crises. Strategies may include:

• Frequent carbohydrate-rich meals to prevent hypoglycemia
• Supplements or medications to manage lactic acidosis
• A diet tailored to individual metabolic needs

Prognosis

The prognosis for individuals with PEPCK 2 deficiency varies depending on the severity of the enzyme deficiency and the effectiveness of the management strategies. Early diagnosis and intervention can improve the quality of life and reduce the risk of severe metabolic crises.

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