Vitamin B12 metabolism in hepatic glycogen storage disease
Patients with GSDs have to stick to a special diet which poses them at risk of vitamin B12 deficiency. On the other hand, liver damage has been described as cause of elevated vitamin B12 concentrations in blood.
This study is the first comprehensive assessment of the vitamin B12 metabolism in hepatic GSD patients.
The aims of this study are
- to assess the vitamin B12 status of patients with hepatic GSDs using different plasma biomarkers of vitamin B12 status, thereby excluding functional deficiency
- to elucidate whether associations exist between vitamin B12 status and liver function/metabolic control, and
- to elucidate which other factors (supplementation, age etc.) influence vitamin B12 levels in this patient cohort.
Glycogen storage disease type I in adulthood
GSD Ia is clinically characterised by severe fasting hypoglycemia, hepatomegaly, failure to thrive, growth retardation, truncal obesity, doll-like facies, short stature, bleeding tendency and hypotrophic muscles. Laboratory findings include hyperuricemia, hyperlipidemia, and elevated lactate levels. GSD Ib shares these main features with GSD Ia, but is additionally aggravated by neutropenia and neutrophil dysfunction, associated with frequent infections and possible chronic inflammatory bowel disease. As patients with GSDs I have to adhere to a strict diet (frequent meals, supplementation of uncooked cornstarch or continuous overnight tube feeds) and have to live with the risk of severe hypoglycaemia, these diseases have a high impact on daily life of patients. Due to improved therapy most patients with GSD I nowadays reach adulthood. As a consequence, they have to deal with new issues of their disease connected with adult daily life such as integration in work and social life, sports, travelling, dietary management, disease monitoring, self-autonomy, family planning, and the patients’ attitude towards their disease.
In this project we investigate the impact of GSD I on adult life in patients from different metabolic centres throughout Germany.