Ethylmalonic adipic aciduria
Ethylmalonic Adipic Aciduria
Ethylmalonic adipic aciduria (EMAA) is a rare metabolic disorder characterized by the abnormal accumulation of ethylmalonic acid and adipic acid in the body. This condition is classified as an organic acidemia, which is a group of disorders that result from the accumulation of organic acids due to defects in metabolic pathways.
Pathophysiology[edit | edit source]
Ethylmalonic adipic aciduria is caused by a deficiency in the enzyme acyl-CoA dehydrogenase, which is involved in the breakdown of fatty acids. This enzyme deficiency leads to the accumulation of ethylmalonic acid and adipic acid in the body, which can be detected in the urine. The exact genetic mutations responsible for this enzyme deficiency are not fully understood, but it is believed to be inherited in an autosomal recessive manner.
Clinical Presentation[edit | edit source]
Patients with ethylmalonic adipic aciduria typically present in infancy or early childhood. Common symptoms include:
- Developmental delay
- Hypotonia (reduced muscle tone)
- Seizures
- Failure to thrive
- Metabolic acidosis
The severity of symptoms can vary widely among affected individuals.
Diagnosis[edit | edit source]
Diagnosis of ethylmalonic adipic aciduria is based on clinical presentation, biochemical testing, and genetic analysis. Key diagnostic tests include:
- Urine organic acid analysis, which shows elevated levels of ethylmalonic acid and adipic acid.
- Plasma acylcarnitine profile, which may show abnormalities consistent with fatty acid oxidation disorders.
- Genetic testing to identify mutations in genes associated with fatty acid metabolism.
Management[edit | edit source]
There is currently no cure for ethylmalonic adipic aciduria, and treatment is primarily supportive. Management strategies may include:
- Dietary modifications to reduce the intake of certain fats and proteins.
- Supplementation with carnitine to help with fatty acid metabolism.
- Treatment of metabolic acidosis with bicarbonate or other alkalinizing agents.
- Seizure management with antiepileptic drugs.
Prognosis[edit | edit source]
The prognosis for individuals with ethylmalonic adipic aciduria varies depending on the severity of the condition and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes, but some individuals may experience significant developmental and neurological challenges.
Research Directions[edit | edit source]
Ongoing research is focused on better understanding the genetic basis of ethylmalonic adipic aciduria and developing targeted therapies. Advances in gene therapy and enzyme replacement therapy hold potential for future treatment options.
Also see[edit | edit source]
NIH genetic and rare disease info[edit source]
Ethylmalonic adipic aciduria is a rare disease.
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Contributors: Prab R. Tumpati, MD
