Chronischer Alkoholmißbrauch - CDT
|Dietary Mannose Supplementation in
Phosphomannomutase 2 Deficiency (PMM2-CDG)
|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. CDT measured with Chromsystems assay. Under peer-review||2020|
|SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy||High-dose manganese substitution was effective in two patients with SLC39A8 deficiency. Close therapy monitoring by glycosylation assays and blood manganese measurements is necessary to prevent manganese toxicity. Glyocsilation was measured by the HPLC assay for CDT by Chromsystems||2018|
|Limitations of galactose therapy in phosphoglucomutase 1 deficiency||The results of this single case study stress the need for individualized therapy in PGM1 deficiency. In their patient, the current standard dose of galactose did not achieve complete normalization of glycosylation as well as other laboratory parameters. CDT was measured by HPLC assay from Chromsystems||2017|
|Mutations in the X-linked ATP6AP2 Cause a Glycosylation Disorder With Autophagic Defects||our data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy. CDT was measured with the Chromsystems assay||2017|
|Alcohol abuse and cigarette smoking are associated with global DNA hypermethylation: Results from the German Investigation on Neurobiology in Alcoholism (GINA)||This study suggests a direct effect of alcohol consumption and smoking on DNA methylation, which is not mediated by effects of alcohol on homocysteine metabolism.||2015|
|Transferrin variants:Pitfalls in the diagnostics of CDG. ( Clinical Biochemistry) Limitations of galactose therapy in phosphoglucomutase 1deficiency.
( Molecular Genetics and Metabolism Reports)
|Transferrin variants are pitfalls in the diagnostics of CDG. The found variants change the charge of the transferrin molecule, thus affecting the standard diagnostic procedures. Neuraminidase digestion as well as ESI-TOF MS can identify variants and mutations in a laboratory context.||2015|
Please find here publications as guides for reference ranges or therapeutic ranges. As they may differ from other published data. Data vary depending on patient population and measurement method, please determine ranges for your laboratory. When determining ranges make sure that you comply with local national requirements.