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Child Neurology: Ethylmalonic encephalopathy
- Source :
- Neurology. 94(12)
- Publication Year :
- 2020
-
Abstract
- Ethylmalonic encephalopathy (EE; OMIM #602473) is an autosomal recessive disorder characterized by (1) progressive neurologic impairment, including global developmental delay with periods of regression during illness, progressive pyramidal and extrapyramidal signs, and seizures; and (2) generalized microvascular damage, including petechial purpura and chronic hemorrhagic diarrhea. It leads to premature death. EE is caused by mutations in ethylmalonic encephalopathy protein 1 ( ETHE1 ), and more than 60 different mutations have been reported.1,2 ETHE1 encodes a mitochondrial sulfur dioxygenase involved in the catabolism of hydrogen sulfide (H2S).2 Impairment of sulfur dioxygenase leads to the accumulation of hydrogen sulfide and its derivatives (thiosulphate) in various body fluids and tissues. Higher concentration of H2S is toxic and induces direct damage to cell membranes. It inhibits cytochrome c oxidase (COX), increases lactic acid and short-chain acyl-COA dehydrogenase, and leads to elevation of ethyl malonate and C4/C5 acylcarnitine in muscle and brain.2 We describe the clinical phenotype and MRI, pathologic, and biochemical findings of a patient with EE from India who had a novel homozygous c.493 G>C (p.D165H) variation in ETHE1 .
- Subjects :
- Male
medicine.medical_specialty
Nucleocytoplasmic Transport Proteins
Mutation, Missense
medicine.disease_cause
Mitochondrial Proteins
03 medical and health sciences
0302 clinical medicine
Ethylmalonic encephalopathy
Internal medicine
medicine
Cytochrome c oxidase
Missense mutation
Humans
030212 general & internal medicine
Global developmental delay
Purpura
Mutation
biology
Catabolism
business.industry
Brain Diseases, Metabolic, Inborn
Sulfur dioxygenase
medicine.disease
Endocrinology
Child, Preschool
biology.protein
ETHE1
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 1526632X
- Volume :
- 94
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....9239693a5397f0b05990c80150930ef5