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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Bibliographic Details
Published in:The journal of pediatric research 2018-03, Vol.5 (1), p.51-53
Main Authors: Kasapkara, Cigdem Seher, Aksoy, Ayse, Polat, Emine, Kilic, Mustafa, Ceylaner, Serdar
Format: Article
Language:English
Subjects:
Acids
Acrocyanosis
Brothers and sisters
Case reports
Case studies
Causes of
Complications and side effects
Congenital diseases
Cytochrome
developmental delay
Diarrhea
Drug therapy
Encephalopathy
ETHE1
ethylmalonic encephalopathy
Health aspects
Inborn errors of metabolism
Metabolic disorders
Mutation
Pediatrics
Siblings
Sulfur
Urine
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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.
ISSN:2147-9445
2587-2478
2147-9445
DOI:10.4274/jpr.65477