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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
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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| _version_ | 1797910762715348992 |
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| author | Çiğdem Seher Kasapkara Ayşe Aksoy Emine Polat Mustafa Kılıç Serdar Ceylaner |
| author_facet | Çiğdem Seher Kasapkara Ayşe Aksoy Emine Polat Mustafa Kılıç Serdar Ceylaner |
| author_sort | Çiğdem Seher Kasapkara |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T11:29:35Z |
| format | Article |
| id | doaj.art-21bec63d51d448ffba270b5e2b55d943 |
| institution | Directory Open Access Journal |
| issn | 2147-9445 2587-2478 |
| language | English |
| last_indexed | 2024-04-10T11:29:35Z |
| publishDate | 2018-03-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-21bec63d51d448ffba270b5e2b55d9432023-02-15T16:18:10ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782018-03-0151515310.4274/jpr.6547713049054Siblings with Ethylmalonic Encephalopathy: Case ReportÇiğdem Seher Kasapkara0Ayşe Aksoy1Emine Polat2Mustafa Kılıç3Serdar Ceylaner4 University of Health Sciences, Ankara Dr. Sami Ulus Women and Children’s Training and Research Hospital, Clinic of Pediatric Metabolism and Nutrition, Ankara, Turkey University of Health Sciences, Ankara Dr. Sami Ulus Women and Children’s Training and Research Hospital, Clinic of Pediatric Neurology, Ankara, Turkey University of Health Sciences, Ankara Dr. Sami Ulus Women and Children’s Training and Research Hospital, Clinic of Pediatrics, Ankara, Turkey University of Health Sciences, Ankara Dr. Sami Ulus Women and Children’s Training and Research Hospital, Clinic of Pediatric Metabolism and Nutrition, Ankara, Turkey Intergen Genetics Center, Clinic of Medical Genetics, Ankara, Turkey 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. http://jpedres.org/archives/archive-detail/article-preview/siblings-with-ethylmalonic-encephalopathy-case-rep/18780 Acrocyanosisdevelopmental delayETHE1ethylmalonic encephalopathy |
| spellingShingle | Çiğdem Seher Kasapkara Ayşe Aksoy Emine Polat Mustafa Kılıç Serdar Ceylaner Siblings with Ethylmalonic Encephalopathy: Case Report Journal of Pediatric Research Acrocyanosis developmental delay ETHE1 ethylmalonic encephalopathy |
| title | Siblings with Ethylmalonic Encephalopathy: Case Report |
| title_full | Siblings with Ethylmalonic Encephalopathy: Case Report |
| title_fullStr | Siblings with Ethylmalonic Encephalopathy: Case Report |
| title_full_unstemmed | Siblings with Ethylmalonic Encephalopathy: Case Report |
| title_short | Siblings with Ethylmalonic Encephalopathy: Case Report |
| title_sort | siblings with ethylmalonic encephalopathy case report |
| topic | Acrocyanosis developmental delay ETHE1 ethylmalonic encephalopathy |
| url |
http://jpedres.org/archives/archive-detail/article-preview/siblings-with-ethylmalonic-encephalopathy-case-rep/18780
|
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