Lactate dehydrogenase deficiency type C

Lactate Dehydrogenase Deficiency Type C is a rare genetic disorder affecting the body's ability to metabolize lactate properly due to a deficiency in one form of the enzyme lactate dehydrogenase (LDH). This enzyme plays a crucial role in the glycolysis pathway, converting lactate to pyruvate and vice versa, which is essential for producing energy in cells. LDH has several isoenzymes, and Type C deficiency specifically refers to a deficiency in the LDH-C isoenzyme, which is predominantly found in the testes.

Symptoms and Diagnosis

The clinical presentation of Lactate Dehydrogenase Deficiency Type C can vary widely among affected individuals. Some may remain asymptomatic, while others may experience symptoms related to impaired energy metabolism. Due to the specific expression of LDH-C in the testes, this condition has been associated with male infertility, characterized by a reduction in sperm motility.

Diagnosis of Lactate Dehydrogenase Deficiency Type C involves biochemical tests to measure the levels and activity of LDH isoenzymes in the blood. Genetic testing can confirm mutations in the gene responsible for encoding the LDH-C enzyme, providing a definitive diagnosis.

Genetics

The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutation, typically do not show symptoms of the disease.

Treatment and Management

There is no specific treatment for Lactate Dehydrogenase Deficiency Type C. Management focuses on addressing symptoms and complications as they arise. In cases where infertility is a concern, assisted reproductive technologies may be considered.

Epidemiology

Lactate Dehydrogenase Deficiency Type C is extremely rare, with few documented cases worldwide. Due to its rarity and the potential for asymptomatic cases, the true prevalence of the condition is difficult to determine.

See Also

• Lactate dehydrogenase
• Metabolic disorder
• Genetic disorder
• Infertility

Lactate dehydrogenase deficiency type C Resources
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