title: [Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver].
abstract: OBJECTIVE
  To 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.
  
  
  METHODS
  Potential mutations of the ETFDH gene were detected with polymerase chain reaction (PCR) and DNA sequencing.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  A 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.
authors.affiliation: Department of Gastroenterology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518036, China. zhousm15d@aliyun.com; 13008803656@163.com.
authors.forename: Dongling
authors.initials: D
authors.lastname: Dai
authors.forename: Feiqiu
authors.initials: F
authors.lastname: Wen
authors.forename: Shaoming
authors.initials: S
authors.lastname: Zhou
authors.forename: Shuli
authors.initials: S
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D044927:Electron-Transferring Flavoproteins / Q000235:genetics*; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005234:Fatty Liver / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D010375:Pedigree
chemical_list: D044927:Electron-Transferring Flavoproteins; D005230:Fatty Acids, Nonesterified; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase