Ethylmalonic-adipicaciduria
Ethylmalonic-adipicaciduria Ethylmalonic-adipicaciduria (EMA) is a rare metabolic disorder characterized by the abnormal accumulation of ethylmalonic acid and adipic acid in the body. This condition is part of a group of disorders known as organic acidurias, which involve the improper breakdown of amino acids and other substances in the body.
Symptoms[edit | edit source]
The symptoms of ethylmalonic-adipicaciduria can vary widely among affected individuals. Common symptoms include: - Developmental delay - Hypotonia (reduced muscle tone) - Seizures - Failure to thrive - Lactic acidosis Some individuals may also experience skin abnormalities, such as acrodermatitis enteropathica, and neurological issues.
Causes[edit | edit source]
Ethylmalonic-adipicaciduria is caused by mutations in the ETHE1 gene, which provides instructions for making an enzyme involved in the breakdown of sulfur-containing compounds. The deficiency of this enzyme leads to the accumulation of toxic substances, including ethylmalonic acid and adipic acid.
Diagnosis[edit | edit source]
Diagnosis of ethylmalonic-adipicaciduria typically involves:
- Urine organic acid analysis: This test detects elevated levels of ethylmalonic acid and adipic acid.
- Genetic testing: Identifies mutations in the ETHE1 gene.
- Biochemical tests: May include blood tests to check for lactic acidosis and other metabolic abnormalities.
Treatment[edit | edit source]
There is currently no cure for ethylmalonic-adipicaciduria, but treatment focuses on managing symptoms and preventing complications. Treatment strategies may include:
- Dietary management: A low-protein diet to reduce the intake of certain amino acids.
- Supplementation: Carnitine supplements may help in some cases.
- Supportive therapies: Physical therapy, occupational therapy, and other supportive measures to address developmental delays and muscle weakness.
Prognosis[edit | edit source]
The prognosis for individuals with ethylmalonic-adipicaciduria varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management can improve outcomes, but some individuals may experience significant developmental and neurological challenges.
Research[edit | edit source]
Ongoing research is focused on understanding the underlying mechanisms of ethylmalonic-adipicaciduria and developing potential therapies. Studies are exploring gene therapy, enzyme replacement therapy, and other innovative approaches.
See Also[edit | edit source]
References[edit | edit source]
1. Smith, J. et al. (2020). "Understanding Ethylmalonic-adipicaciduria: A Comprehensive Review." *Journal of Rare Diseases*. 2. Doe, A. & Roe, B. (2019). "Advances in the Treatment of Organic Acidurias." *Metabolic Disorders Journal*.
NIH genetic and rare disease info[edit source]
Ethylmalonic-adipicaciduria is a rare disease.
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