Phosphoenolpyruvate carboxykinase deficiency

From WikiMD's Wellness Encyclopedia

A rare metabolic disorder affecting gluconeogenesis


Phosphoenolpyruvate carboxykinase deficiency
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Hypoglycemia, lactic acidosis, hepatomegaly
Complications N/A
Onset
Duration
Types N/A
Causes Genetic mutation
Risks
Diagnosis Genetic testing, blood tests
Differential diagnosis N/A
Prevention N/A
Treatment Dietary management, glucose supplementation
Medication N/A
Prognosis Variable
Frequency Extremely rare
Deaths N/A


Phosphoenolpyruvate carboxykinase deficiency (PEPCK deficiency) is a rare metabolic disorder that affects the body's ability to perform gluconeogenesis, the process of producing glucose from non-carbohydrate sources. This condition is caused by a deficiency in the enzyme phosphoenolpyruvate carboxykinase (PEPCK), which is crucial for the conversion of oxaloacetate to phosphoenolpyruvate in the gluconeogenesis pathway.

Pathophysiology[edit | edit source]

PEPCK is an enzyme that plays a critical role in the gluconeogenesis pathway, primarily in the liver and kidney. It catalyzes the conversion of oxaloacetate to phosphoenolpyruvate, a key step in the production of glucose from lactate, amino acids, and glycerol. In individuals with PEPCK deficiency, this conversion is impaired, leading to a buildup of oxaloacetate and a decrease in glucose production.

The deficiency in PEPCK results in symptoms such as hypoglycemia, lactic acidosis, and hepatomegaly. Hypoglycemia occurs due to the reduced ability to produce glucose, while lactic acidosis results from the accumulation of lactate, a substrate for gluconeogenesis that cannot be efficiently converted to glucose.

Genetics[edit | edit source]

PEPCK deficiency is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The gene responsible for encoding the PEPCK enzyme is located on chromosome 20, and mutations in this gene lead to the enzyme deficiency.

Clinical Presentation[edit | edit source]

Patients with PEPCK deficiency typically present in infancy or early childhood with symptoms of hypoglycemia, which may include seizures, lethargy, and poor feeding. Lactic acidosis can lead to rapid breathing and vomiting. Hepatomegaly, or an enlarged liver, is often observed due to the accumulation of glycogen and other metabolic intermediates.

Diagnosis[edit | edit source]

Diagnosis of PEPCK deficiency involves a combination of clinical evaluation, laboratory tests, and genetic testing. Blood tests may reveal hypoglycemia, elevated lactate levels, and metabolic acidosis. Genetic testing can confirm the diagnosis by identifying mutations in the PEPCK gene.

Management[edit | edit source]

Management of PEPCK deficiency focuses on maintaining normal blood glucose levels and preventing metabolic crises. This can be achieved through frequent feedings, a high-carbohydrate diet, and glucose supplementation during periods of fasting or illness. In some cases, continuous glucose monitoring may be necessary to prevent hypoglycemia.

Prognosis[edit | edit source]

The prognosis for individuals with PEPCK deficiency varies depending on the severity of the enzyme deficiency and the effectiveness of management strategies. With appropriate dietary management and monitoring, many individuals can lead relatively normal lives, although they may require ongoing medical supervision.

Also see[edit | edit source]




WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD