3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaric aciduria is an organic aciduria caused by a deficiency in the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase. This enzyme plays a key role in both ketogenesis and the metabolism of the amino acid leucine. The condition often presents in infancy, and episodes of metabolic decompensation can occur during periods of fasting or when a child is experiencing an infection. These metabolic crises can be life-threatening if they are not managed promptly, and there is a risk of neurological problems developing if the condition remains untreated.

People with this condition often experience episodes of metabolic decompensation, especially during times of fasting or infection. In infancy, these episodes can be severe and may include signs of metabolic distress.

This condition is caused by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which is essential for proper ketogenesis and leucine metabolism. The gene known as HMGCL is linked to this deficiency.

Information about treatment is currently limited for this condition.

If left untreated, the episodes of metabolic decompensation can be life-threatening and may lead to neurological complications. The outcome for people with this condition depends on early detection and proper management of metabolic crises.

Information about research is currently limited for this condition.