Anthropometric Phenotype of Patients with PMM2-CDG.

Patryk Lipiński,Agnieszka Różdżyńska-Świątkowska,Anna Tylki-Szymańska,Anna Bogdańska

doi:10.3390/children8100852

Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska + Show 2 more

Open Access

https://doi.org/10.3390/children8100852

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Abstract

Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and anthropometric phenotype. Materials and methods: Retrospective chart review of PMM2-CDG patients’ medical records was performed regarding the anthropometric measurements (head circumference, body length/height, body weight, body mass index) and PMM2 variants. Results: A negative tendency of growth evolution was observed. Patients found to be heterozygous for R141H grew slower than other patients. Body weight was correlated with body height. A negative tendency of the growth rate of head circumference was observed. Patients found to be heterozygous for R141H experienced slower growth than other patients. Conclusions: Long-term observational studies are essential to characterize the anthropometric phenotype. The body growth failure, as well as head circumference growth failure, were more severe in patients found to be heterozygous for R141H.

Highlights

Growth failure is commonly reported in children with PMM2-congenital disorder of glycosylation (CDG)
PMM2-CDG is caused by biallelic pathogenic variants in the PMM2 gene, encoding enzyme phosphomannomutase 2, which catalyzes the second step in the N-glycosylation pathway: the conversion of mannose-6-phosphate to mannose-1-phosphate
All our patients presented with an infantile neuro-visceral form of PMM2-CDG

Summary

Introduction

Growth failure is commonly reported in children with PMM2-CDG. Glycosylation is the most common post-translational modification of proteins and lipids. About 50% of human proteins are glycoproteins. They are important components of the hormone cascades, regulating growth and metabolism [1]. Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation (CDG) in Poland [2,3,4]. PMM2-CDG is caused by biallelic pathogenic variants in the PMM2 gene, encoding enzyme phosphomannomutase 2, which catalyzes the second step in the N-glycosylation pathway: the conversion of mannose-6-phosphate to mannose-1-phosphate. Growth failure and failure to thrive are commonly reported in children with PMM2-CDG [5]. There is still limited information on the natural history of PMM2-CDG regarding the anthropometric phenotype. Establishing the growth curves for this population is of significant interest, especially to clinicians and families who care for these individuals

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