6-phosphogluconate dehydrogenase deficiency

6-phosphogluconate dehydrogenase deficiency

6-Phosphogluconate dehydrogenase deficiency is a rare metabolic disorder characterized by a deficiency of the enzyme 6-phosphogluconate dehydrogenase (6PGD), which plays a crucial role in the pentose phosphate pathway (PPP). This pathway is important for the production of NADPH and ribose 5-phosphate, which are essential for fatty acid synthesis and the synthesis of nucleotides, respectively.

The deficiency of 6PGD disrupts the normal functioning of the PPP, leading to a variety of clinical manifestations. However, the specific symptoms and their severity can vary widely among affected individuals. Some may experience mild symptoms, while others may have more severe complications.

Symptoms

Symptoms of 6-phosphogluconate dehydrogenase deficiency can include:

• Chronic non-spherocytic hemolytic anemia
• Jaundice
• Splenomegaly
• Increased susceptibility to infections due to impaired neutrophil function

Diagnosis

Diagnosis of 6-phosphogluconate dehydrogenase deficiency typically involves:

• Blood tests to measure the activity of the 6PGD enzyme
• Genetic testing to identify mutations in the gene that encodes the 6PGD enzyme

Treatment

There is no specific treatment for 6-phosphogluconate dehydrogenase deficiency. Management of the condition focuses on alleviating symptoms and preventing complications. This may include:

• Regular monitoring of hemoglobin levels and red blood cell count
• Treatment of infections
• Folic acid supplementation to support red blood cell production

In severe cases, splenectomy (removal of the spleen) may be considered to reduce the destruction of red blood cells.

Genetics

6-Phosphogluconate dehydrogenase deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Epidemiology

The exact prevalence of 6-phosphogluconate dehydrogenase deficiency is unknown, but it is considered to be a very rare condition. Cases have been reported in various ethnic groups and geographic regions, indicating that it occurs worldwide.

See Also

• Pentose phosphate pathway
• Glucose-6-phosphate dehydrogenase deficiency
• Metabolic disorder