Congenital disorders of glycosylation type Ia as a cause of mirror syndrome

Wurm, Donald; Löffler, G.; Lindinger, Angelika; Gortner, Ludwig

doi:10.1038/sj.jp.7211847

Cited by 10 publications

(4 citation statements)

References 11 publications

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“…Congenital disorders of glycosylation are frequently associated with reduced fertility possibly due to altered glycosylation of peptide hormones [ 157 ]. ‘Mirror syndrome’ with maternal oedema in the setting of hydrops foetalis has been reported in two pregnancies where the foetus was later diagnosed with CDG 1a [ 158 ]. This represents an example of a foetal IEM affecting the mother.…”

Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders especially, remain a preventable cause of maternal and neonatal mortality and morbidity. Increased awareness of these conditions amongst all clinicians is essential to expedite diagnosis and manage appropriately. This review aims to describe normal adaptations to pregnancy and discuss how various types of IEM may be affected. Relevant translational research and clinical experience will be reviewed with practical management aspects cited. Based on current literature, the impact of maternal IEM on mother and/or foetus, as well as how foetal IEM may affect the mother, will be considered. Insights gained from these rare disorders to more common conditions will be explored. Gaps in the literature, unanswered questions and steps to enhance further knowledge and systematically capture experience, such as establishment of an IEM-pregnancy registry, will be summarized.

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Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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“…glycosylation type Ia (CDG-Ia) was identified as the underlying disease in the fetus in both cases [68].…”

Section: Accepted M Manuscriptmentioning

confidence: 99%

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Grünewald

2009

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

116

104

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Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG-Ia became the most frequently diagnosed CDG subtype. CDG-Ia is pan-ethnic and the spectrum of the clinical manifestations is still evolving: it spans from severe hydrops fetalis and fetal loss to a (nearly) normal phenotype. However, the most common presentation in infancy is of a multisystem disorder with central nervous system involvement.

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“…However, in all patients with transient hypoglycemia, the duration of treatment with diazoxide has been larger than 1 year. Four patients died in infancy but six others survived with different degrees of organ involvement.…”

Section: Resultsmentioning

confidence: 99%

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

et al. 2019

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Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG. The frequency and etiology of hypoglycemia in PMM2‐CDG are not well studied. Methods We conducted a systematic review of the literature on genetically and/or biochemically confirmed PMM2‐CDG patients who developed hypoglycemia. Prospective follow‐up information on the patients who received diazoxide therapy was collected and evaluated. Results A total of 165 peer‐reviewed articles reporting on 933 PMM2‐CDG patients were assessed. Hypoglycemia was specifically mentioned only in 23 of these patients (2.5%). Hyperinsulinism was identified in 10 patients (43% of all hypoglycemic patients). Among these 10 patients, seven were successfully treated with diazoxide. However, most patients remained on therapy longer than a year to stay free of hypoglycemia. Conclusion Hypoglycemia is a rarely reported finding in patients with PMM2‐CDG. Diazoxide‐responsive hyperinsulinism was found to have a good prognosis on medication in our PMM2‐CDG patients with hypoglycemia. No genotype‐phenotype correlation was observed with respect to hyperinsulinism. A prospective study should be undertaken to explore the hypothesis that hypoglycemia is underdiagnosed in PMM2‐CDG and to evaluate whether hyperinsulinism is always associated with hypoglycemia.

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Congenital disorders of glycosylation type Ia as a cause of mirror syndrome

Cited by 10 publications

References 11 publications

Impact of pregnancy on inborn errors of metabolism

Impact of pregnancy on inborn errors of metabolism

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

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