Some patients with severe glutathione synthetase deficiency also develop recurrent bacterial infections, probably due to defective granulocyte function
Classical EDS Marked skin hyperextensibility (figure 1), together with widened atrophic cutaneous scars (figure 2) and generalised joint hypermobility, is typical of classical EDS (MIM 130010).4 Additional skin signs are easy bruising with staining due to haemosiderin deposition (particularly noticeable on the shins and dorsa of the hands), subcutaneous spheroids (fat lobules that have calcified after losing their blood supply) and molluscoid pseudotumours (associated with scars over the knees and elbows that are thickened fleshy skin lesions (figure 3))
the elderly, strict vegetarians (i.e., vegan), and patients with malabsorption problems are more likely to become deficient
Based on preclinical (animal and cellular) data only, inhibition of NNMT by 5-Amino-1MQ is theorised to: Raise intracellular NAD+ levels Activate SIRT1 and other sirtuins (proteins linked to metabolic regulation) Reduce fat cell (adipocyte) size and proliferation Improve insulin sensitivity These effects have been demonstrated in mouse models (Neelakantan et al., 2019), but robust human clinical trial data are currently absent
