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 language | English (US) |
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Pages (from-to) | 2438-2442 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 188 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2022 |
Keywords
- AAMR
- GMPPA
- achalasia
- congenital disorder of glycosylation
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)