| Title | Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis |
| Authors | Li, Xiyuan Ding, Yuan Ma, Yanyan Liu, Yupeng Wang, Qiao Song, Jinqing Yang, Yanling |
| Affiliation | Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China. |
| Keywords | ACADVL gene Mitochondrial fatty acid beta-oxidation Very long-chain acyl-coenzyme A dehydrogenase deficiency Very long-chain fatty acid TANDEM MASS-SPECTROMETRY ACID OXIDATION DISORDERS COA DEHYDROGENASE MISSENSE MUTATIONS BETA-OXIDATION NEWBORN DISEASE MANAGEMENT |
| Issue Date | 2015 |
| Publisher | european journal of medical genetics |
| Citation | EUROPEAN JOURNAL OF MEDICAL GENETICS.2015,58,(3),134-139. |
| Abstract | Objective: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare mitochondrial fatty acid beta-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. (C) 2015 Elsevier Masson SAS. All rights reserved. |
| URI | http://hdl.handle.net/20.500.11897/159825 |
| ISSN | 1769-7212 |
| DOI | 10.1016/j.ejmg.2015.01.005 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 第一医院 |
