title: Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
abstract: OBJECTIVE
  Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare mitochondrial fatty acid β-oxidation disorder. We aimed to explore the clinical, biochemical, and genetic findings, treatments and outcomes in eight Chinese VLCADD patients.
  
  
  METHODS
  Eight patients from six unrelated Chinese families with symptomatic VLCADD were diagnosed in the past 4 years. The clinical features and ACADVL gene mutations were analyzed.
  
  
  RESULTS
  One patient underwent newborn screening and has been treated timely, she hardly had any symptoms. The remaining seven patients were found because of edema, diarrhea, coma, liver damage and psychomotor retardation. Seven patients had fatty liver. Five had myopathy. All patients had elevated blood tetradecanoylcarnitine. Nine heterozygous mutations of the ACADVL gene were found. Three (c.1102C > T, c.1795G > A and IVS10, +6T > A) were novel. Seven patients completely recovered after treatment. One patient died before diagnosis due to cardiomyopathy. His mother underwent amniocentesis for prenatal diagnosis. The fetus had the same gene mutation of the proband and markedly elevated tetradecanoylcarnitine in amniotic fluid. The boy has been treated after birth and he is healthy now.
  
  
  CONCLUSIONS
  Dietary treatment usually leads to good outcomes to VLCADD patients. Amniocytes ACADVL mutations and amniotic fluid tetradecanoylcarnitine analysis are useful for the prenatal diagnosis.
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Xiyuan
authors: X
authors: Li
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Yuan
authors: Y
authors: Ding
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Yanyan
authors: Y
authors: Ma
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Yupeng
authors: Y
authors: Liu
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Qiao
authors: Q
authors: Wang
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Jinqing
authors: J
authors: Song
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address: yanlingy@vip.sina.com.
authors: Yanling
authors: Y
authors: Yang
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D044944:Acyl-CoA Dehydrogenases / Q000235:genetics / Q000378:metabolism; D000653:Amniotic Fluid / Q000737:chemistry; D001205:Ascorbic Acid / Q000494:pharmacology; D044466:Asian People / Q000235:genetics*; D001629:Bezafibrate / Q000494:pharmacology; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood / Q000494:pharmacology; D016022:Case-Control Studies; D002681:China; D002853:Chromatography, Liquid; D000080984:Congenital Bone Marrow Failure Syndromes; D018076:DNA, Complementary; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007223:Infant; D041943:Infant Formula / Q000737:chemistry; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D020125:Mutation, Missense; D015997:Neonatal Screening; D011296:Prenatal Diagnosis; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D053719:Tandem Mass Spectrometry; D016896:Treatment Outcome; D014280:Triglycerides / Q000494:pharmacology; D014803:Vitamin B Complex / Q000494:pharmacology
chemical_list: D018076:DNA, Complementary; D014280:Triglycerides; D014803:Vitamin B Complex; C002893:decanoylcarnitine; D044944:Acyl-CoA Dehydrogenases; D044942:Acyl-CoA Dehydrogenase, Long-Chain; C467805:ACADVL protein, human; C549517:ACAD9 protein, human; D001205:Ascorbic Acid; D002331:Carnitine; D001629:Bezafibrate
keywords: ACADVL gene; Mitochondrial fatty acid β-oxidation; Very long-chain acyl-coenzyme A dehydrogenase deficiency; Very long-chain fatty acid