Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver.
- VernacularTitle:合并重度脂肪肝的迟发型多种酰基辅酶A脱氢酶缺乏症的临床表现及基因分析
- Author:
Dongling DAI
1
,
2
,
3
;
Feiqiu WEN
;
Shaoming ZHOU
;
Shuli CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; Electron-Transferring Flavoproteins; genetics; Fatty Acids, Nonesterified; blood; Fatty Liver; blood; enzymology; genetics; Female; Humans; Infant; Iron-Sulfur Proteins; genetics; Male; Molecular Sequence Data; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; blood; enzymology; genetics; Mutation; Oxidoreductases Acting on CH-NH Group Donors; genetics; Pedigree
- From: Chinese Journal of Medical Genetics 2016;33(2):191-194
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical features and gene mutations in an adolescent patient affected with late-onset multiple aeyl-CoA dehydrogenase deficiency (MADD) with severe fatty liver.
METHODSPotential mutations of the ETFDH gene were detected with polymerase chain reaction (PCR) and DNA sequencing.
RESULTSThe 13-year-and-10-month girl has presented with weakness without any other special manifestation. Laboratory tests demonstrated an elevation of myocardial enzyme levels, total cholesterol, lactic acid and abnormal serum free fatty acids. H magnetic resonance spectroscopy revealed severe fatty liver. An increase in multiple plasma acyl-carnitines was detected by gas chromatography/mass spectrometry and isobutyrylglycine in urine by screening with tandem mass spectrometry. Genetic analysis demonstrated 2 heterozygous missense mutations c.250G>A (p.Ala84Thr) and c.353G>T (p.Cys118Phe) in the ETFDH gene. The diagnosis of MADD was confirmed. The patient was given large dose of vitamin B2, which resulted in rapid clinical and biochemical improvement.
CONCLUSIONA common mutation c.250G>A and a novel mutation c.353G>T in the ETFDH gene were identified in the patient. The pathogenic role of c.353G>T (p.Cys118Phe) deserves further study. Early diagnosis of MADD and appropriate therapy is crucial for the prognosis.
