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Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: Introduction

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells and in type 2 the deficiency occurs in the mitochondrial part of the cell. More detailed information about the symptoms, causes, and treatments of Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is available below.

Symptoms of Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

Wrongly Diagnosed with Phosphoenolpyruvate carboxykinase (PEPCK) deficiency?

Causes of Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

Read more about causes of Phosphoenolpyruvate carboxykinase (PEPCK) deficiency.

Misdiagnosis and Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of...read more »

Statistics for Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: Broader Related Topics

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Definitions of Phosphoenolpyruvate carboxykinase (PEPCK) deficiency:

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Phosphoenolpyruvate carboxykinase (PEPCK) deficiency as a "rare disease".
Source - Orphanet

Related Phosphoenolpyruvate carboxykinase (PEPCK) deficiency Info

Videos about Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

 

More information about Phosphoenolpyruvate carboxykinase (PEPCK) deficiency

  1. Phosphoenolpyruvate carboxykinase (PEPCK) deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
 

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