D-glyceric aciduria

A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

What is D-glyceric aciduria?

D-glyceric aciduria is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have D-glyceric aciduria, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with D-glyceric aciduria

Bilateral tonic-clonic seizureDeeply set eyeFailure to thriveFocal clonic seizureGastroesophageal refluxSeizureSensorineural hearing impairmentStatus epilepticus

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.