HMG-CoA Lyase Deficiency (HMGCL)

HMG-CoA lyase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene GCL and is considered to be a pan-ethnic disorder. Individuals affected with this disorder are unable to create energy during periods without food intake (fasting). As a result, individuals present with symptoms that include fever, vomiting, diarrhea, dehydration, extreme tiredness, and weak muscle tone within the first year of life. Fasting, infection, strenuous exercise, and stress often trigger symptoms. Untreated individuals can additionally suffer from breathing problems, convulsions, coma, and death. However, with effective treatment available, prognosis is favorable and majority of symptoms can be avoided. The disease severity cannot be predicted based on the inherited variants.

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