Isovaleric Acidemia

Isovaleric acidemia is a rare genetic disorder characterized by the inability of the body to properly break down a particular amino acid called leucine.

Causes

Isovaleric acidemia is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is necessary for the breakdown of leucine. This deficiency leads to the accumulation of isovaleric acid and other toxic compounds in the body.

Symptoms

The symptoms of isovaleric acidemia can vary in severity and may include:

• Seizures
• Coma
• Vomiting
• Diarrhea
• Abdominal pain
• Fever
• Weakness
• Lethargy
• Sweaty feet odor (due to the accumulation of isovaleric acid, which has a characteristic sweaty foot smell)

Diagnosis

Isovaleric acidemia can be diagnosed through:

• Newborn screening tests, which measure the levels of isovaleric acid in the blood
• Urine tests, which detect the presence of isovaleric acid and other abnormal compounds
• Blood tests, which measure the levels of amino acids and other substances in the blood
• Genetic testing, which identifies the genetic mutation responsible for the enzyme deficiency

Treatment

The treatment of isovaleric acidemia typically involves:

• A low-protein diet, which reduces the intake of leucine and other amino acids that can exacerbate the condition
• Supplementation with glycine, which helps to reduce the levels of isovaleric acid in the body
• L-Carnitine supplementation, which helps to transport fatty acids into the mitochondria for energy production
• Medications, such as metronidazole and nifuroxazide, which help to reduce the production of isovaleric acid

Complications

If left untreated or poorly managed, isovaleric acidemia can lead to:

• Developmental delays
• Intellectual disability
• Seizures and other neurological problems
• Cardiovascular problems, such as cardiomyopathy
• Pancreatitis and other gastrointestinal problems

Inheritance Pattern

Isovaleric acidemia is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.