ArticleAmerican journal of medical genetics. Part A2022
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Achalasia, alacrimia, and normal adrenal function in a toddler: GDP-mannose pyrophosphorylase A-congenital disorder of glycosylation mimicking Allgrove syndrome.Clinical and experimental pediatrics · 2026Article
- Achalasia and mental retardation in a child with uniparental disomy ofGastroenterology report · 2025Article
- Infantile achalasia cardia: A rare case report of a 3-month-old female with recurrent pneumonia successfully treated with surgical intervention.International journal of surgery case reports · 2025Article
- Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of theMolecular syndromology · 2024Article
- Pathogenesis, clinical manifestations, diagnosis, and treatment progress of achalasia of cardia.World journal of clinical cases · 2023Review
- A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.American journal of medical genetics. Part A · 2022Article
- Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.Molecular genetics and metabolismArticle
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
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.
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