Organic Acids Test (The Great Plains Laboratory)

3-Hydroxyglutaric (Males Age 13 and Over)

Optimal Result: 0 - 4.6 mmol/mol creatinine.

3-Hydroxyglutaric is a marker of glutaryl CoA dehydrogenase deficiency. This enzyme is involved in the breakdown of lysine, hydroxylysine, and tryptophan, and is associated with the genetic disease, glutaric aciduria type 1.

What does it mean if your 3-Hydroxyglutaric (Males Age 13 and Over) result is too high?

- Elevated 3-hydroxyglutaric acid may occur in combination with glutaric and glutaconic acids.

- Slight elevations may indicate mitochondrial dysfunction.

Possible symptoms:

Symptoms of glutaryl CoA dehydrogenase deficiency are varied. Some individuals appear normal, while others display encephalopathy, autism, cerebral palsy, and additional neurological abnormalities.

Possible treatment:

Treatment includes adherence to a diet low in lysine and supplementation with carnitine.

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