Molecular analyses revealed a homozygous for p.R163Q (c.488 G>A) mutation in ETHE1 gene
📌 3 Key Takeaways
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Objective & Hypothesis:Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocyanosis, defective cytochrome C oxidase because of hydrogen sulfide accumulation and death in the first years of life.
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Key Findings & Data:Biochemical hallmarks of the disease are high level of lactate, C4-C5-acylcarnitines in blood and markedly elevated urinary excretion of methylsuccinic and ethylmalonic acids.
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Conclusion & Impact:Molecular analyses revealed a homozygous for p.R163Q (c.488 G>A) mutation in ETHE1 gene
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocyanosis, defective cytochrome C oxidase because of hydrogen sulfide accumulation and death in the first years of life. Biochemical hallmarks of the disease are high level of lactate, C4-C5-acylcarnitines in blood and markedly elevated urinary excretion of methylsuccinic and ethylmalonic acids. We report on two siblings who were admitted to a pediatric metabolic unit with acrocyanosis, chronic diarrhea and psychomotor retardation later diagnosed as ethylmalonic encephalopathy. Molecular analyses revealed a homozygous for p.R163Q (c.488 G>A) mutation in ETHE1 gene
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Cite This Article
KASAPKARA, Ç. S., AKSOY, A., POLAT, E., KILIÇ, M., CEYLANER, S. (2018). Siblings with Ethylmalonic Encephalopathy: Case Report. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 50–53. https://ajindex.com/articles/362812
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