Ethylmalonic aciduria

Ethylmalonic aciduria is a rare metabolic disorder characterized by the accumulation of ethylmalonic acid in the urine. It is a type of organic aciduria, a group of conditions caused by an abnormality in the metabolism of amino acids.

Etiology

Ethylmalonic aciduria is caused by a deficiency in the enzyme short-chain acyl-CoA dehydrogenase (SCAD). This enzyme is involved in the breakdown of certain amino acids and fatty acids. When SCAD is deficient, these substances are not broken down properly and can build up in the body, leading to the symptoms of ethylmalonic aciduria.

Symptoms

The symptoms of ethylmalonic aciduria can vary widely, but often include chronic diarrhea, failure to thrive, and developmental delay. Other symptoms can include petechiae (small red or purple spots on the skin), orthostatic acrocyanosis (a bluish discoloration of the skin that occurs when standing), and a distinctive odor of the urine.

Diagnosis

Diagnosis of ethylmalonic aciduria is typically made through urine organic acid analysis, which can detect elevated levels of ethylmalonic acid. Genetic testing can also be used to confirm the diagnosis and identify the specific mutation causing the condition.

Treatment

There is currently no cure for ethylmalonic aciduria, and treatment is primarily supportive. This can include dietary modifications to limit the intake of certain amino acids, as well as medications to manage symptoms.

Prognosis

The prognosis for individuals with ethylmalonic aciduria can vary widely, depending on the severity of symptoms and the individual's response to treatment. Some individuals may have a relatively normal lifespan with appropriate management, while others may experience significant health challenges.

See also

• Organic aciduria
• Metabolic disorder
• Short-chain acyl-CoA dehydrogenase deficiency