D-Glyceric acidemia

D-Glyceric acidemia is a rare inherited metabolic disorder characterized by the body's inability to properly process the amino acid glycine. This condition is caused by a deficiency of the enzyme D-glycerate kinase, which is involved in the breakdown of glycine. The disorder can lead to a variety of symptoms, including developmental delay, seizures, and failure to thrive.

Symptoms

The symptoms of D-Glyceric acidemia can vary greatly from person to person. Some individuals may experience only mild symptoms, while others may have severe neurological complications. Common symptoms include:

• Developmental delay
• Seizures
• Failure to thrive
• Metabolic acidosis
• Hyperglycinemia

Causes

D-Glyceric acidemia is caused by mutations in the GLYCTK gene, which provides instructions for making the enzyme D-glycerate kinase. This enzyme is involved in the breakdown of the amino acid glycine. When the enzyme is deficient, glycine and D-glyceric acid can build up in the body, leading to the symptoms of the disorder.

Diagnosis

The diagnosis of D-Glyceric acidemia is typically made through a combination of clinical examination, laboratory testing, and genetic testing. Laboratory tests may include blood and urine tests to check for elevated levels of glycine and D-glyceric acid. Genetic testing can confirm the diagnosis by identifying mutations in the GLYCTK gene.

Treatment

There is currently no cure for D-Glyceric acidemia, and treatment is focused on managing the symptoms of the disorder. This may include medications to control seizures, dietary modifications to limit the intake of glycine, and other supportive therapies.

See also

• Metabolic disorder
• Glycine
• GLYCTK gene

References

D-Glyceric acidemia Resources
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