Isovaleric Acidemia

What is isovaleric acidemia?

Patients with isovaleric acidemia (IVA) are unable to break an amino acid called leucine due to deficiency of isovaleryl-CoA dehydrogenase enzymes. Leucine is one of the essential amino acids that must be met from food. The manifestation of leucine buildup occurs very acutely in the first few days of life.

 

 

 

Gambar 1. Defek enzim pada isovaleric acidemia

How rare is isovaleric acidemia?

Prevalence of IVA disease is 1 / 250,000 babies. Both male and female infants have the same risk of developing the disease. This rare disease is inherited autosomal recessively.

 

What are the symptoms of isovaleric acidemia?

Signs and symptoms of IVA can manifest from mild to severe to life-threatening. In severe cases, symptoms of IVA arise in a few days of life. The initial symptoms that appear are decreased intake of food, vomiting, seizures, lethargy. Without treatment, IVA can cause fatal conditions, even death.

One of the hallmarks of patients with IVA is that they have a distinctive odor like "sweaty feet" caused by the build up of isovaleric acid.

For some cases that are less severe IVA, symptoms may occur within a few months. The typical signs and symptoms are failure to thrive and developmental delay. Symptoms in patients can be so severe that induce a metabolic crisis, especially in conditions of fasting, infection, or a very high intake of protein.

 

How to treat isovaleric acidemia?

Special formula which is free from leucine can be given as a long-term treatment. Leucine supplementation may be given at a dose of 800 mg / day. Most IVA sufferers can tolerate 20-30 g protein / day to meet growth and development requirement.

Glycine or carnitine supplementation need to be given to facilitate conjugation with isovalerate in order to form isovaleryglycine that can be more easily excreted.

In patients with severe acute symptoms, the buildup of isovaleric acid can be reduced by means of exchange transfusion prior to long-term therapy.

 

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