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.
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.
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DOI：
10.1016/j.jpeds.2016.09.050
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发表时间：
2017-01
影响因子：
5.1
通讯作者：
Pena, Loren D. M.
中科院分区：
文献类型：
--
作者：
McCrory, Nicholas M.;Edick, Mathew J.;Ahmad, Ayesha;Lipinski, Susan;Schwoerer, Jessica A. Scott;Zhai, Shaohui;Justice, Kaitlin;Cameron, Cynthia A.;Berry, Susan A.;Pena, Loren D. M.
比较丙酸血症（PA）的评估时间和诊断时的症状，并探讨基因型和生化变量之间的相关性。我们回顾性分析了58例PA患者的临床症状、基因型和生化结果，这些患者是根据最初确定的类型（异常新生儿筛查（NBS）、临床表现（症状性）或家族史）纳入先天性代谢异常信息系统（IBEM-IS）的。通过异常NBS确定的患者与因临床症状转诊的患者相比，初始评估和治疗时的平均年龄显着年轻。此外，与少数临床表现相比，大多数因NBS异常而确定的个体在诊断时无症状。在NBS异常的患者（12.5%，2/16）与临床表现（79%，19/24）之间观察到初始表现时代谢性酸中毒的频率存在显著差异。两组高氨血症的发生率相似。我们的数据支持新生儿筛查的持续价值，以确定个人与PA，谁是诊断和治疗早于其他模式的确定。基因型与NBS C3酰基肉毒碱无显著相关性。虽然扩大的新生儿筛查允许早期诊断和治疗，PA患者的长期结局，特别是在确定模式方面，仍不清楚，将受益于纵向研究。
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. Clinical symptoms, genotype, and biochemical findings were retrospectively analyzed 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 screen (NBS), clinical presentation (symptomatic), or family history. The average age at initial evaluation and treatment was significantly younger for patients ascertained via an abnormal NBS versus those who were referred for clinical symptoms. Furthermore, the majority of individuals ascertained due to an abnormal NBS were asymptomatic at diagnosis compared with a minority of clinical presentations. A notable difference in frequency of metabolic acidosis at initial presentation was observed between those with abnormal NBS (12.5%, 2/16) versus clinical presentations (79%, 19/24). The frequency of hyperammonemia was similar in both groups. Our data support the continued value of newborn screening 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 C3 acylcarnitines. Although expanded newborn screening has allowed for early diagnosis and treatment, long-term outcomes of individuals with PA, especially with respect to mode of ascertainment, remains unclear and would benefit from longitudinal study.
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影响因子：
1.6
作者：
Sass, JO;Hofmann, M;Sperl, W
通讯作者：
Sperl, W
DOI：
10.1073/pnas.87.4.1372
发表时间：
1990-02-01
影响因子：
11.1
作者：
TAHARA, T;KRAUS, JP;ROSENBERG, LE
通讯作者：
ROSENBERG, LE
DOI：
10.1016/j.bbadis.2013.04.027
发表时间：
2014-12-01
影响因子：
6.2
作者：
Dercksen, M.;Ijlst, L.;Wanders, R. J. A.
通讯作者：
Wanders, R. J. A.
影响因子：
2.6
作者：
Kamboj, Manmohan
通讯作者：
Kamboj, Manmohan
影响因子：
3.8
作者：
Desviat, Lourdes R.;Sanchez-Alcudia, Rocio;Ugarte, Magdalena
通讯作者：
Ugarte, Magdalena