Glutaric acidemia type III

Glutaric acidemia type 3; Glutaric aciduria type III; GA III; Glutaric aciduria type 3; Glutaryl-CoA oxidase deficiency

Definition

Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid.

Cause

Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III.

Inheritance

Autosomal recessive inheritance, a 25% chance

The condition follows an autosomal recessive pattern of inheritance.

Signs and symptoms

No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 5%-29% of people have these symptoms

• Goiter(Enlarged thyroid gland in neck)
• Hyperthyroidism(Overactive thyroid)

Treatment

Treatment with riboflavin has been helpful in some patients.

NIH genetic and rare disease info

• NIH info on Glutaric acidemia type III

Glutaric acidemia type III is a rare disease.

Glutaric acidemia type III Resources
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