ArticleJournal of inherited metabolic disease2009
Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.Frontiers in endocrinology · 2025Review
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 DeficiencyJournal of clinical research in pediatric endocrinology · 2022Article
- Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022Review
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.Molecular genetics and metabolism reports · 2020Article
- Hormonal dysfunction in adult patients affected with inherited metabolic disorders.Journal of mother and child · 2020Review
- Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.JIMD reports · 2020Article
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
- Congenital disorders of glycosylation.Annals of translational medicine · 2018Review
- Genetic characteristics of patients with congenital hyperinsulinism.Current opinion in pediatrics · 2018Review
- Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.Sudanese journal of paediatrics · 2018Review
- Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.Journal of the American Society of Nephrology : JASN · 2017Article
- Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Journal of inherited metabolic disease · 2017Review
- KATP channels and cardiovascular disease: suddenly a syndrome.Circulation research · 2013Review
- The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.Indian journal of endocrinology and metabolism · 2013Article
- Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Journal of inherited metabolic disease · 2012Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver impairment, hypothyroidism and a pericardial effusion. The second patient, also female, had a milder disease with single organ involvement, presenting as isolated hyperinsulinaemic hypoglycaemia, not associated with any cognitive impairment. The third patient, a boy presented with multi-organ manifestations including congenital hypothyroidism, persistent hyperinsulinaemic hypoglycaemia, coagulopathy, olivopontocerebellar hypoplasia and recurrent pancreatitis. All three patients had a type 1 serum transferrin isoform pattern, and were subsequently found to have low phosphomannomutase activity, confirming the diagnosis of CDG type Ia. Our findings emphasize that CDG should be considered as a differential diagnosis in patients with persistent hyperinsulinaemic hypoglycaemia and that it may even occasionally be the leading symptom in CDG Ia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.