کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5514036 | 1400693 | 2016 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
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کلمات کلیدی
MCTNBSRUSPRecommended Uniform Screening PanelVLCADVery long chain acyl-CoA dehydrogenasefatty acid oxidation disorder - اختلال اکسیداسیون اسید چربNatural history - تاریخ طبیعیmedium chain triglycerides - تری گلیسیرید زنجیره متوسطInborn errors of metabolism - خطاهای متولد شده متابولیسمRhabdomyolysis - رابدومیولیزHELLP syndrome - سندرم HELLPNewborn screening - غربالگری نوزادانCreatine kinase - کراتین کینازVery long chain acyl-CoA dehydrogenase deficiency - کمبود زنجیره آکیل-کئوآآدیدروژناز زنجیره ای بسیار طولانی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis, treatment, and surveillance can reduce mortality; hence, the disorder is included in the newborn Recommended Uniform Screening Panel (RUSP) in the United States. The Inborn Errors of Metabolism Information System (IBEM-IS) was established in 2007 to collect longitudinal information on individuals with inborn errors of metabolism included in newborn screening (NBS) programs, including VLCAD deficiency. We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1-18Â years. Maternal prenatal symptoms were not reported, and most newborns remained asymptomatic. Cardiomyopathy was uncommon in the cohort, diagnosed in 2/52 cases. Elevations in creatine kinase were a common finding, and usually first occurred during the toddler period (1-3Â years of age). Diagnostic evaluations required several testing modalities, most commonly plasma acylcarnitine profiles and molecular testing. Functional testing, including fibroblast acylcarnitine profiling and white blood cell or fibroblast enzyme assay, is a useful diagnostic adjunct if uncharacterized mutations are identified.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 118, Issue 4, August 2016, Pages 272-281
Journal: Molecular Genetics and Metabolism - Volume 118, Issue 4, August 2016, Pages 272-281
نویسندگان
Loren D.M. Pena, Sandra C. van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia Cameron, Al-Walid Mohsen, Susan A. Berry, Georgianne L. Arnold, Jerry Vockley, for the IBEMC for the IBEMC,