A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants

Irina Geiculescu, Jason Dranove, Graham Cosper, Andrew C. Edmondson, Eva Morava-Kozicz, Lauren B. Carter

Research output: Contribution to journalArticlepeer-review

Abstract

Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA-congenital disorder of glycosylation (CDG) should also be in the differential diagnosis. We report a 9-month-old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG. This rare disorder is commonly associated with developmental delay and intellectual disability. We discuss management of this disorder including the importance of confirming a genetic diagnosis and summarize reported cases.

Original languageEnglish (US)
Pages (from-to)2438-2442
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume188
Issue number8
DOIs
StatePublished - Aug 2022

Keywords

  • AAMR
  • achalasia
  • congenital disorder of glycosylation
  • GMPPA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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