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

Nicholas M. McCrory, Mathew J. Edick, Ayesha Ahmad, Susan Lipinski, Jessica A. Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A. Cameron, Susan A. Berry, Loren D M Pena, Inborn Errors of Metabolism Collaborative

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

Objectives 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 design Clinical 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. Results The 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. Conclusion Our 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.

Original languageEnglish (US)
Pages (from-to)200-205.e8
JournalJournal of Pediatrics
Volume180
DOIs
StatePublished - Jan 1 2017

Keywords

  • C3 acylcarnitine
  • history
  • hyperammonemia
  • hyperglycinemia
  • longitudinal follow up
  • natural
  • newborn screening
  • nonketotic
  • organic acidemia

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