Isovaleric acidemia (IVA) is a rare metabolic disorder that occurs when there is an accumulation of isovaleric acid in the body at higher levels than normal. This disorder is one of the amino acid metabolism disorders, as there is a problem specifically related to the metabolism of amino acids. Isovaleric acidemia exhibits an autosomal recessive inheritance pattern. Diagnosis of isovaleric acidemia is made through blood and urine tests. Treatment begins with a special diet and restriction of valine intake. Medications may also be used to manage symptoms and maintain metabolic balance. Individuals with isovaleric acidemia should be regularly monitored by a metabolic disorders specialist.
Causes of Isovaleric Acidemia
Isovaleric acidemia is based on the following reasons:
Genetic Mutations: Isovaleric acidemia is a genetic disease and usually occurs due to mutated genes passed down from parents to a person.
Isovaleryl-CoA Isomerase Enzyme Deficiency: Isovaleric acidemia occurs as a result of a deficiency or dysfunction of an enzyme called isovaleryl-CoA isomerase.
Symptoms of Isovaleric Acidemia
Symptoms of isovaleric acidemia may include:
- vomiting and feeding problems
- sweating with odor
- neurological symptoms
- urinary problems
- hyperactivity
Diagnosis of Isovaleric Acidemia
Diagnosis of isovaleric acidemia is made through a series of medical tests and evaluations that involve examining symptoms and metabolic changes:
Clinical Evaluation: The first step is a clinical evaluation that examines the patient’s symptoms and medical history.
Blood and Urine Tests: Blood and urine tests are conducted for the diagnosis of isovaleric acidemia.
Genetic Tests: Definitive diagnosis of isovaleric acidemia is made through genetic tests.
Metabolic Investigation: Diagnosis of isovaleric acidemia, a metabolic disease, involves examining tests related to metabolism.
Imaging: Imaging tests such as brain imaging can be used to identify neurological problems caused by isovaleric acidemia.
Treatment of Isovaleric Acidemia
The treatment of isovaleric acidemia aims to control the levels of accumulated isovaleric acid in the body and alleviate symptoms:
Special Diet: One of the fundamental components of isovaleric acidemia treatment is implementing a special diet to help reduce the levels of accumulated isovaleric acid in the body.
Vitamin and Mineral Supplements: Individuals with isovaleric acidemia may require certain vitamins and minerals.
Medication: Medications can be used to control or manage symptoms.
Regular Monitoring: Individuals with isovaleric acidemia should be regularly monitored by a metabolic disorders specialist.
Genetic Counseling: Isovaleric acidemia is a genetic disease, so genetic counseling is provided to the patient and their family.
Management of Isovaleric Acidemia
The management of isovaleric acidemia aims to control the patient’s symptoms, reduce the levels of accumulated isovaleric acid in the body, and improve quality of life:
Special Diet: The foundation of isovaleric acidemia treatment is a special diet.
Vitamin and Mineral Supplements: Individuals with isovaleric acidemia may require certain vitamins and minerals.
Medication: Medications can be used to control or manage symptoms.
Regular Monitoring: Individuals with isovaleric acidemia should be regularly monitored by a metabolic disorders specialist.
Genetic Counseling: Isovaleric acidemia is a genetic disease, so genetic counseling is provided to the patient and their family.
Education and Support: Education and psychosocial support are provided to the patient and their family to cope with both the disease itself and the special diet and treatment plans.