Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

详细信息    查看全文

• 作者：Nicholas M. McCrory ; BA¹ ; Mathew J. Edick ; PhD² ; Ayesha Ahmad ; MD³ ; Susan Lipinski ; RD³ ; Jessica A. Scott Schwoerer ; MD⁴ ; Shaohui Zhai ; PhD² ; Kaitlin Justice ; BS² ; Cynthia A. Cameron ; PhD² ; Susan A. Berry ; MD⁵ ; Loren D.M. Pena ; MD ; PhD¹ ; ^{loren.pena@duke.edu} ; on behalf of the Inborn Errors of Metabolism Collaborative^*
• 关键词：organic acidemia ; newborn screening ; C3 acylcarnitine ; nonketotic ; hyperglycinemia ; hyperammonemia ; longitudinal follow up ; natural ; history
• 刊名：The Journal of Pediatrics
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：180
• 期：Complete
• 页码：200-205.e8
• 全文大小：435 K
• 卷排序：180

文摘

To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables.Study designClinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of initial ascertainment: abnormal newborn screening (NBS), clinical presentation (symptomatic), or family history.ResultsThe average age at initial evaluation and treatment was significantly younger in patients ascertained via abnormal NBS compared with those referred for clinical symptoms. Furthermore, the majority of individuals ascertained because of abnormal NBS were asymptomatic at diagnosis, compared with a minority of clinical presentations. A notable difference in the frequency of metabolic acidosis at initial presentation was observed between those with abnormal NBS (12.5%; 2 of 16) and those with an abnormal clinical presentation (79%; 19 of 24). The frequency of hyperammonemia was similar in the 2 groups.ConclusionOur data support the continued value of NBS to identify individuals with PA, who are diagnosed and treated earlier than for other modes of ascertainment. There were no statistically significant correlations between genotype and NBS for C3 acylcarnitines. Although expanded use of NBS has allowed for early diagnosis and treatment, long-term outcomes of individuals with PA, especially with respect to mode of ascertainment, remain unclear and would benefit from a longitudinal study.