Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Mohamed, Miski; Theodore, Miranda; Grinten, Hedi Claahsen van der; Herwaarden, Antonius E. van; Huijben, Karin; Dongen, Lotte Van; Kouwenberg, Dorus; Lefeber, Dirk; Wevers, Ron A.; Morava, Éva

doi:10.1016/j.ymgme.2012.02.001

Cited by 13 publications

(14 citation statements)

References 19 publications

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“…FT4 is the most reliable marker for thyroid function and indicator for treatment to avoid over‐treatment based only on a high TSH . Among 255 PMM2‐CDG patients, 13% were labeled as hypothyroidism.…”

Section: Systems Summaries and Statementsmentioning

confidence: 99%

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan

Péanne

Jaeken

et al. 2019

J of Inher Metab Disea

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107

126

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Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.

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Section: Systems Summaries and Statementsmentioning

confidence: 99%

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan

Péanne

Jaeken

et al. 2019

J of Inher Metab Disea

Self Cite

107

126

View full text Add to dashboard Cite

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“…Liver biopsies are rarely indicated in CDG unless hepatic fibrosis is suspected (1). Clinical hypothyroidism is rare, but patients with CDG should have their thyroid hormones and free T4 measured, which may show low thyroid binding globulin (TBG) and transient elevations in thyroid stimulating hormone (TSH) (37). Liver and bile duct malformations have not been reported in PMM2-CDG patients.…”

Section: Pmm2-cdg (Cdg-ia Pmm2 Deficiency)mentioning

confidence: 99%

Congenital disorders of glycosylation

Chang¹,

He²,

Lam³

2018

Ann. Transl. Med

180

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Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms, and variable coagulation and endocrine abnormalities. Carbohydrate deficient transferrin (CDT) and protein-linked glycan analysis with mass spectrometry can diagnose some subtypes of congenital disorders of glycosylation (CDG), while many currently rely on massively parallel genomic sequencing for diagnosis. Early detection is important, as a few of these disorders are treatable. Molecular and biochemical techniques continue to further our understanding of this rapidly expanding group of clinically and genetically diverse disorders.

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“…There is no official management protocol for PMM2‐CDG, and the treatment remains supportive and symptomatic. Reviews about hypothyroidism and thrombotic events due to coagulopathy among PMM2‐CDG patients have been published, which give suggestions about the management of these conditions (Linssen, Mohamed, Wevers, Lefeber, & Morava, ; Mohamed et al, ). All our described patients are under regular follow‐up and treated when needed.…”

Section: Discussionmentioning

confidence: 99%

Three families with mild PMM2‐CDG and normal cognitive development

Vals

Morava

Teeäär

et al. 2017

American J of Med Genetics Pt A

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Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death. We report six patients from three families who are diagnosed with a clinically mild PMM2-CDG and have normal cognitive development. All these patients had delayed gross motor skills with mild-to-moderate neurological findings. Cerebellar hypoplasia was detected in all siblings for whom brain MRI was performed. In 5/6 children the Wechsler Intelligence Scale for Children (WISC) showed normal cognitive development with full scale IQ scores ranging from borderline to average. Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. We report patients with p.Val231Met/p.Arg239Trp and p.Ile120Thr/p.Gly228Cys genotypes which may cause milder variants of PMM2-CDG.

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Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Cited by 13 publications

References 19 publications

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Congenital disorders of glycosylation

Three families with mild PMM2‐CDG and normal cognitive development

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