About Glutaric Aciduria Type I

What is Glutaric Aciduria Type I?

Glutaric Aciduria Type I (GA-I) is an inherited metabolic disorder caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH). This enzyme is responsible for breaking down certain amino acids in the body. When GCDH is deficient, the body is unable to break down these amino acids, leading to a buildup of toxic substances in the body. Symptoms of GA-I can include developmental delays, seizures, movement disorders, and muscle weakness. Treatment for GA-I typically involves dietary management and supplementation with specific vitamins and minerals.

What are the symptoms of Glutaric Aciduria Type I?

The symptoms of Glutaric Aciduria Type I (GA-I) vary from person to person, but can include:

-Developmental delay

-Seizures

-Movement disorders

-Muscle weakness

-Feeding difficulties

-Vomiting

-Failure to thrive

-Lethargy

-Liver dysfunction

-Hypoglycemia

-Elevated levels of glutaric acid in the urine

-Elevated levels of glutaric acid in the blood

What are the causes of Glutaric Aciduria Type I?

Glutaric Aciduria Type I (GA-I) is an inherited disorder caused by mutations in the GCDH gene. This gene provides instructions for making an enzyme called glutaryl-CoA dehydrogenase, which is involved in breaking down certain proteins and fats. When this enzyme is not functioning properly, a toxic substance called glutaric acid builds up in the body, leading to the signs and symptoms of GA-I.

What are the treatments for Glutaric Aciduria Type I?

1. Dietary management: A low-protein diet is recommended to reduce the amount of glutaric acid produced in the body.

2. Vitamin supplementation: Vitamin B6, biotin, and carnitine are often prescribed to help reduce the amount of glutaric acid in the body.

3. Medications: Medications such as sodium benzoate and sodium phenylbutyrate may be prescribed to help reduce the amount of glutaric acid in the body.

4. Enzyme replacement therapy: Enzyme replacement therapy may be used to help reduce the amount of glutaric acid in the body.

5. Surgery: Surgery may be recommended to help reduce the amount of glutaric acid in the body.

6. Gene therapy: Gene therapy may be used to help reduce the amount of glutar

What are the risk factors for Glutaric Aciduria Type I?

1. Genetic mutation: Glutaric Aciduria Type I is caused by a genetic mutation in the GCDH gene.

2. Family history: Glutaric Aciduria Type I is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for a child to be affected.

3. Ethnicity: Glutaric Aciduria Type I is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Amish.

4. Age: Glutaric Aciduria Type I is most commonly diagnosed in infancy.

Is there a cure/medications for Glutaric Aciduria Type I?

Yes, there is a cure for Glutaric Aciduria Type I. Treatment typically involves a combination of dietary management, medications, and supplements. Dietary management includes avoiding foods that are high in protein and limiting the intake of certain amino acids. Medications such as carnitine and biotin may be prescribed to help the body break down and metabolize fatty acids. Supplements such as vitamin B6, vitamin C, and zinc may also be recommended to help the body process amino acids.