Isovaleric acid CoA dehydrogenase deficiency

=Isovaleric Acid CoA Dehydrogenase Deficiency = Isovaleric acid CoA dehydrogenase deficiency, also known as isovaleric acidemia, is a rare metabolic disorder that affects the body's ability to break down certain proteins. This condition is part of a group of disorders known as organic acidemias, which are characterized by the accumulation of organic acids in the body.

Pathophysiology

Isovaleric acidemia is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is involved in the breakdown of the amino acid leucine. This enzyme deficiency leads to the accumulation of isovaleric acid and other toxic substances in the body, which can cause a variety of symptoms and complications.

Genetics

The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected. The gene responsible for isovaleric acidemia is located on chromosome 15 and is known as IVD.

Symptoms

Symptoms of isovaleric acidemia can vary widely among affected individuals. Common symptoms include:

• Poor feeding
• Vomiting
• Lethargy
• Seizures
• A distinctive odor of sweaty feet

In severe cases, the condition can lead to metabolic acidosis, coma, and even death if not treated promptly.

Diagnosis

Diagnosis of isovaleric acidemia is typically made through newborn screening programs that test for elevated levels of isovaleric acid in the blood. Confirmatory tests include:

• Plasma amino acid analysis
• Urine organic acid analysis
• Genetic testing for mutations in the IVD gene

Treatment

Management of isovaleric acidemia involves dietary restrictions to limit the intake of leucine, along with supplementation of certain nutrients. Treatment may include:

• A low-protein diet
• Glycine supplementation
• Carnitine supplementation

In acute episodes, emergency treatment may be necessary to manage metabolic crises.

Prognosis

With early diagnosis and proper management, individuals with isovaleric acidemia can lead relatively normal lives. However, the prognosis can vary depending on the severity of the condition and the effectiveness of treatment.

Research

Ongoing research is focused on improving diagnostic methods, understanding the genetic basis of the disorder, and developing new treatments. Gene therapy and enzyme replacement therapy are areas of active investigation.

See Also

• Organic acidemia
• Metabolic disorder
• Newborn screening
• National Organization for Rare Disorders (NORD)
• Genetics Home Reference
• Orphanet

External Links

• Isovaleric Acidemia at NIH
• OMIM Entry on Isovaleric Acidemia

NIH genetic and rare disease info

• NIH info on Isovaleric acid CoA dehydrogenase deficiency

Isovaleric acid CoA dehydrogenase deficiency is a rare disease.