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Abstract
BackgroundPMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG patients have been unsuccessful. Mannose found no further mention in the design of a potential therapy for PMM2-CDG in the past years, as it applies to be ineffective. This retrospective study analyzes the first long term mannose supplementation in 20 PMM2-CDG patients. Mannose was given at a total of 1–2 g mannose/kg b.w./d divided into 5 single doses over a mean time of 57,75 ± 25,85 months. Protein glycosylation, blood mannose concentration and clinical presentation were monitored in everyday clinical practice.ResultsAfter a mean time period of more than 1 year the majority of patients showed significant improvements in protein glycosylation.ConclusionDietary mannose supplementation shows biological effects in PMM2-CDG patients improving glycosylation in the majority of patients. A double-blind randomized study is needed to examine the role of mannose in the design of a therapy for children with PMM2-CDG in more detail.
Highlights
PMM2-Congenital disorders of glycosylation (CDG) (CDG-Ia) is the most frequent N-glycosylation disorder
No patient developed increased HbA1c values as it was described for oral mannose therapy in a MPI-CDG patient [7]
A positive response to mannose therapy was defined as increase of tetrasialo-transferrin in Tf-high performance liquid chromatography (HPLC) by 50% of pretreatment levels within 2–3 years of mannose therapy
Summary
While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG patients have been unsuccessful. Mannose found no further mention in the design of a potential therapy for PMM2-CDG in the past years, as it applies to be ineffective. This retrospective study analyzes the first long term mannose supplementation in 20 PMM2-CDG patients. Mannose applies as utterly ineffective for PMM2-CDG and no causative treatment for this disease is found, yet This retrospective analysis provides data of positive biochemical effects of a long-term (> 1 year) mannose supplementation in PMM2-CDG
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