About Glutaric Aciduria Type II

What is Glutaric Aciduria Type II?

Glutaric Aciduria Type II (GA-II) 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, including lysine, hydroxylysine, and tryptophan. Without GCDH, these amino acids accumulate in the body, leading to a variety of symptoms, including developmental delays, movement disorders, and seizures. In some cases, GA-II can lead to life-threatening complications. Treatment for GA-II typically involves dietary modifications, medications, and physical and occupational therapy.

What are the symptoms of Glutaric Aciduria Type II?

The symptoms of Glutaric Aciduria Type II can vary from person to person, but may include:

-Developmental delay

-Seizures

-Muscle weakness

-Movement disorders
-Feeding difficulties
-Growth retardation
-Hearing loss
-Cognitive impairment
-Behavioral problems
-Abnormal facial features
-Abnormalities of the eyes, heart, and kidneys

What are the causes of Glutaric Aciduria Type II?

Glutaric Aciduria Type II (GA-II) 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-II.

What are the treatments for Glutaric Aciduria Type II?

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 replace the missing enzyme in the body.

5. Gene therapy: Gene therapy may be used to replace the defective gene in the body.

6. Surgery: Surgery may be used to remove the affected organs or tissues.

What are the risk factors for Glutaric Aciduria Type II?

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

2. Family history: Having a family history of Glutaric Aciduria Type II increases the risk of developing the condition.

3. Ethnicity: Glutaric Aciduria Type II is more common in certain ethnic groups, such as Ashkenazi Jews and people of Mediterranean descent.

4. Gender: Glutaric Aciduria Type II is more common in males than females.

5. Age: Glutaric Aciduria Type II is more common in infants and young children.

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

Yes, there is a cure for Glutaric Aciduria Type II. 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.