Kohlenhydrat-defizientes Transferrin (CDT): die derzeit spezifischste Kenngröße chronischen Alkoholmißbrauchs

Arndt, T.

doi:10.1515/labm.1999.23.7-8.392

Cited by 5 publications

(8 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Even in MPI-CDG, the rst partial corrections in IEF-and SDS-patterns of serum transferrin needed several to occur after initiation of a mannose therapy with a dose of 100mg/kg three times a day [5]. This cannot be explained by the biological half-life of transferrin (CDT = ~14d; Non-CDT= ~8d) and other glycoproteins (AT III: 3d; Protein C: 6-8h) [16]. Effects on the IEF pattern would be expected not later than four weeks.…”

Section: Discussionmentioning

confidence: 99%

“…Since profound correction of the abnormal isoform pattern took eleven months in MPI-CDG [5], a time frame much longer than the biological half-life of the marker protein transferrin (app. 2 weeks) [16], it could take even more time in PMM2-CDG. To date, mannose applies as utterly ineffective for PMM2-CDG and no causative treatment for this disease is found, yet.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Taday

Grüneberg

DuChesne

et al. 2020

Preprint

View full text Add to dashboard Cite

Background PMM2-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 as 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 60,7 months. Protein glycosylation, blood mannose concentration and clinical presentation were monitored in everyday clinical practice. Results After a mean time period of more than 1 year the majority of patients showed significant improvements in protein glycosylation. Conclusion Long-term dietary D-mannose supplementation shows biological effects in PMM2-CDG, an inherited disorder of mannose metabolism. It improves glycosylation in the majority of patients and could become the first cornerstone in the treatment of this disease.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Taday

Grüneberg

DuChesne

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…1). B. Transferrin [1,2,12,21], α1-Antitrypsin, Hämopexin und Coeruloplasmin [21] auslösen. Seine Funktion besteht in der Modulation der Lipoproteinlipase und damit dem Schutz von Zwischenprodukten aus dem Lipoproteinstoffwechsel vor zu raschem Abbau [19].…”

Section: Abb2 Sds-polyacrylamidgelelektrophorese Von Apo B-100 Von Gunclassified

Lipoprotein- und Apolipoproteinelektrophorese bei X-chromosomal-rezessiver Ichthyose

Arndt¹,

Pelzer

Nenoff

et al. 2000

Der Hautarzt

Self Cite

View full text Add to dashboard Cite

show abstract

“…Since profound correction of the abnormal isoform pattern took 11 months in MPI-CDG [ 5 ], a time frame much longer than the biological half-life of the marker protein transferrin (app. 2 weeks) [ 16 ], it could take even more time in PMM2-CDG. To date, mannose applies as utterly ineffective for PMM2-CDG and no causative treatment for this disease is found, yet.…”

Section: Introductionmentioning

confidence: 99%

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Taday

Grüneberg

DuChesne

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background PMM2-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. Results After a mean time period of more than 1 year the majority of patients showed significant improvements in protein glycosylation. Conclusion Dietary 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.

show abstract

Kohlenhydrat-defizientes Transferrin (CDT): die derzeit spezifischste Kenngröße chronischen Alkoholmißbrauchs

Cited by 5 publications

References 51 publications

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Lipoprotein- und Apolipoproteinelektrophorese bei X-chromosomal-rezessiver Ichthyose

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

Contact Info

Product

Resources

About