Siblings with Ethylmalonic Encephalopathy: Case Report
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 h...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2018-03-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/siblings-with-ethylmalonic-encephalopathy-case-rep/18780
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| Summary: | 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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| ISSN: | 2147-9445 2587-2478 |