Enolase deficiency type 2

Enolase Deficiency Type 2 is a rare metabolic disorder characterized by a deficiency in one of the enzymes involved in the glycolysis pathway, specifically the enzyme enolase. This condition is part of a group of disorders known as glycolytic enzymopathies. Enolase plays a crucial role in the breakdown of glucose to produce energy, and its deficiency can lead to a range of metabolic and neurological symptoms.

Symptoms and Presentation

Patients with Enolase Deficiency Type 2 may present with a variety of symptoms, which can vary significantly in severity. Common symptoms include muscle weakness, intellectual disability, and seizures. Some individuals may also exhibit hemolytic anemia, as the breakdown of red blood cells is affected. The onset of symptoms can occur at any age, but often begins in infancy or early childhood.

Genetics

Enolase Deficiency Type 2 is caused by mutations in the ENO2 gene, which encodes the neuron-specific enolase (NSE) isoform of the enzyme. This 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.

Diagnosis

Diagnosis of Enolase Deficiency Type 2 involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests may reveal elevated levels of certain metabolites in the blood or urine that are indicative of impaired glycolysis. Genetic testing can confirm the presence of mutations in the ENO2 gene.

Treatment

There is currently no cure for Enolase Deficiency Type 2, and treatment is primarily supportive and symptomatic. Management strategies may include physical therapy to improve muscle strength and mobility, medications to control seizures, and nutritional support to address metabolic needs. Regular monitoring by a team of healthcare professionals, including a neurologist, geneticist, and metabolic specialist, is important to manage the condition effectively.

Prognosis

The prognosis for individuals with Enolase Deficiency Type 2 varies depending on the severity of symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve the quality of life for affected individuals.

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