A Chinese girl with ethylmalonic encephalopathy and a novel mutation on ETHE1 gene
10.3969/j.issn.1000-3606.2014.10.021
- VernacularTitle:乙基丙二酸脑病患儿的临床研究及ETHE1基因新突变1例报告
- Author:
Xiyuan LI
;
Yuan DING
;
Yupeng LIU
;
Qiao WANG
;
Jinqing SONG
;
Jintang YE
;
Yao ZHANG
;
Tongfei WU
;
Yanling YANG
- Publication Type:Journal Article
- Keywords:
ethylmalonic aciduria;
ethylmalonic encephalopathy;
ETHE1 gene;
organic aciduria;
child
- From:
Journal of Clinical Pediatrics
2014;(10):980-984
- CountryChina
- Language:Chinese
-
Abstract:
Objective To introduce a case of ethylmalonic encephalopathy which is an autosomal recessive metabolic disorder caused by mutations in the ETHE1 gene. Methods The clinical course and gene mutation in a case of ethylmalonic encephalopathy was retrospectively analysed. Results A previously healthy girl presented with intractable diarrhea from the age of 7 months. Since then, progressive psychomotor regression has been observed. When she was 23 months, her blood butyr-ylcarnitine was signiifcantly increased (4.48μmol/L vs. normal range 0.0~1.0μmol/L), and isovalerylcarnitine (0.70μmol/L vs. normal range 0.0~0.65μmol/L) was also elevated. Her urine levels of ethylmalonic acid and methylsuccinate acid were markedly increased. Cranial MRI revealed bilateral basal ganglia lesions supporting the diagnosis of ethylmalonic encephalopathy. On her ETHE1 gene, a reported mutation (c.488G>A, p.R163Q) and a novel mutation (c.203T>C, p.L68P) were identiifed. After lactose-free dietary treatment and the supplements of L-carnitine, coenzyme Q10, vitamins B1, B2 and C, gradual improvement in general condition, intelligence and motor development has been observed. Conclusions Ethylmalonic aciduria is common in the patients with inborn errors of mitochondrial fatty acid beta-oxidation. In ethylmalonic encephalopathy, elevated blood levels of butyrylcarnitine and isovalerylcarnitine are common and ETHE1 sequencing is helpful in its diagnosis.
