Glutaric Acidemia, Type I (GCDH)

Glutaric acidemia, type 1 is an autosomal recessive disease caused by pathogenic variants in the gene GCDH. It is a metabolic disease that prevents the body from properly breaking down proteins, and therefore treatment involves a specialized diet. Babies with glutaric acidemia, type 1 are born with, or soon develop, a large head size. Affected individuals have episodes of acute neurological deterioration (also called metabolic crises), which include fever, vomiting, low muscle tone, and seizure-like episodes. Long term symptoms can include developmental delay, rigidity, and motor problems, which may affect ability to walk. Some affected children cannot eat and require feeding tubes. Life expectancy is reduced if affected individuals go untreated during a metabolic crisis. Glutaric acidemia, type 1 occurs in people of all ethnic backgrounds, but is more common in people who have Amish, Ojibway-Cree Indian, or Swedish ancestry.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):