What are the other Names for this Condition? (Also known as/Synonyms)

• Glutaric Acidemia Type 3
• Glutaric Aciduria Type 3
• Glutaryl-CoA Oxidase Deficiency Disorder

What is Glutaric Acidemia Type III? (Definition/Background Information)

• Glutaric Acidemia Type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free
• Unlike other types of glutaric acidemia, Glutaric Acidemia Type III 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 and the condition follows an autosomal recessive pattern of inheritance
• Treatment with riboflavin has been helpful in some patients

(Source: Glutaric Acidemia Type III; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Glutaric Acidemia Type III? (Age and Sex Distribution)

• Glutaric Acidemia Type III is a rare congenital disorder. The presentation of symptoms may occur at birth or any age
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Glutaric Acidemia Type III? (Predisposing Factors)

• A positive family history may be an important risk factor, since Glutaric Acidemia Type III can be inherited
• Currently, no other risk factors have been clearly identified for this condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Glutaric Acidemia Type III? (Etiology)

• Glutaric Acidemia Type III may be caused by mutations in the C7ORF10 gene, which localizes to chromosome 7p14 
• The causative C7ORF10 gene mutation is reportedly inherited in an autosomal recessive manner

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Glutaric Acidemia Type III?

The signs and symptoms of Glutaric Acidemia Type III may vary among affected individuals in type and severity. While some affected individuals may be asymptomatic, others may exhibit the following signs and symptoms:

• Diarrhea
• Glutaric aciduria
• Goiter
• Hyperthyroidism
• Vomiting

(Source: Glutaric Acidemia Type III; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Glutaric Acidemia Type III Diagnosed?

Glutaric Acidemia Type III is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Glutaric Acidemia Type III?

The complications of Glutaric Acidemia Type III may include:

• Significant weight loss
• Respiratory distress and difficulty swallowing food, if goiter is present

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Glutaric Acidemia Type III Treated?

There is no cure for Glutaric Acidemia Type III, since it is a genetic condition.

• The treatment is usually given to manage the signs and symptoms and any complications that develop
• Riboflavin treatment may be beneficial in some cases.

How can Glutaric Acidemia Type III be Prevented?

Glutaric Acidemia Type III may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy), if available, may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Glutaric Acidemia Type III? (Outcomes/Resolutions)

• The prognosis of Glutaric Acidemia Type III is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Glutaric Acidemia Type III:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/