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Ethylmalonic encephalopathy is a severe inherited metabolic disorder caused by enzyme deficiency. It leads to toxic buildup of ethylmalonic acid in the body. The condition affects the brain, blood vessels, and gastrointestinal system. Symptoms usually begin in infancy.
read more about ethylmalonic encephalopathy ...The disorder is caused by mutations affecting mitochondrial metabolism. These mutations impair normal energy production. Toxic metabolites accumulate as a result. The condition is inherited in an autosomal recessive pattern.
Symptoms include developmental delay, chronic diarrhea, and muscle weakness. Neurological decline is common. Blood vessel abnormalities can cause skin changes. The disease often progresses rapidly.
Diagnosis involves metabolic testing showing elevated ethylmalonic acid. Genetic testing confirms the diagnosis. Imaging may show brain abnormalities. Early diagnosis is important for care planning.
Ethylmalonic encephalopathy is a serious condition that typically needs ongoing specialist care and close monitoring. Management often focuses on controlling symptoms, supporting nutrition, and reducing episodes of metabolic stress that can trigger worsening. Families usually work with a metabolic genetics team to plan day-to-day care and what to do during illness. If new neurological symptoms, breathing issues, or sudden decline appears, urgent medical evaluation is important.
Yes, it is passed down in an autosomal recessive pattern.
Symptoms typically appear in infancy or early childhood.
There is no cure, but supportive treatment can help manage symptoms.
Yes, it is a severe condition with significant health risks.
NIH GARD. https://rarediseases.info.nih.gov/diseases/6492
OMIM ? Online Mendelian Inheritance in Man. https://www.omim.org/entry/602473
PubMed ? Ethylmalonic Encephalopathy Clinical Review. https://pubmed.ncbi.nlm.nih.gov/23378008/
Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2838
MedlinePlus Genetics. https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy/