Ethylmalonic encephalopathy
Ethylmalonic Encephalopathy (pronunciation: eth-yl-ma-lon-ic en-ceph-a-lop-a-thy) is a rare, inherited metabolic disorder that primarily affects the nervous system, gastrointestinal system, and skin.
Etymology
The term "Ethylmalonic Encephalopathy" is derived from the presence of a high level of a substance called ethylmalonic acid in the urine of affected individuals, and "encephalopathy" which refers to any disease that affects the functioning of the brain.
Symptoms
Symptoms of Ethylmalonic Encephalopathy typically appear in infancy and can include chronic diarrhea, poor feeding, and delayed development. Other signs and symptoms can include recurrent episodes of encephalopathy, which can cause severe brain dysfunction; petechiae, which are small, purplish-red spots on the skin and mucous membranes caused by bleeding under the skin; and abnormal movements.
Causes
Ethylmalonic Encephalopathy is caused by mutations in the ETHE1 gene. This gene provides instructions for making an enzyme that is found in mitochondria, the energy-producing centers in cells. The ETHE1 enzyme is involved in the breakdown of sulfur-containing amino acids, which are building blocks of proteins.
Diagnosis
Diagnosis of Ethylmalonic Encephalopathy is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing, which can detect mutations in the ETHE1 gene.
Treatment
Treatment of Ethylmalonic Encephalopathy is directed toward the specific symptoms that are apparent in each individual. Treatment may include various medications to manage symptoms, dietary restrictions, and other supportive measures.
Prognosis
The prognosis for individuals with Ethylmalonic Encephalopathy varies. The disorder is typically severe and most affected individuals do not survive past early childhood. However, with early detection and appropriate treatment, the prognosis can improve.
See Also
External links
- Medical encyclopedia article on Ethylmalonic encephalopathy
- Wikipedia's article - Ethylmalonic encephalopathy
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