Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System
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- 作者：RaeLynn Forsytha ; Catherine Walsh Vockleyb ; Mathew J. Edickc ; Cynthia A. Cameronc ; Sally J. Hinerd ; Susan A. Berrye ; Jerry Vockleyf ; Georgianne L. Arnoldg ; Glarnold2757@gmail.com" class="auth_mail" title="E-mail the corresponding author ; For the Inborn Errors of Metabolism Collaborative1
- 关键词：3-MCC Deficiency ; Newborn Screening ; Outcomes ; Database ; Symptoms
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：118
- 期：1
- 页码：15-20
- 全文大小：307 K
文摘
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22 cases of 3-MCC deficiency diagnosed by NBS were followed through the Inborn Errors of Metabolism Information System
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One infant had recurrent lactic acidosis with hyperammonemia, and another had acidosis with intercurrent illness.
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Four cases (approximately 15%) had a developmental delay in at least one domain, a finding similar to other studies.