Speaker 

Dr Schwahn trained in paediatric and adolescent medicine and specialised in diabetes, endocrinology and metabolism in Germany. He worked in basic research, including two years as postdoctoral research fellow at McGill University in Canada, and continues to pursue clinical research alongside his clinical commitments. He worked as Consultant Paediatrician in Düsseldorf, Germany, until he was appointed in 2006 as Consultant in Paediatric Metabolic Medicine in Glasgow. He later joined the team at the Willink Metabolic Unit at the Manchester Centre for Genomic Medicine. His clinical work covers the whole range of genetic metabolic disorders in children with a special focus on disorders of intermediary metabolism, remethylation and sulphur amino acids. 

What can we learn from sulphite intoxication disorders?

The sulphur amino acids methionine and cysteine are required for methyl group transfer and as a source of functionally important thiol groups which help maintain the redox equilibrium, provide non-covalent bonding with substrates and covalent disulphide bridges for protein folding and assembly. Disorders that lead to an accumulation of sulphite have serious implications for health and have remained largely untreatable. Examining the pattern and concentrations of soluble thiols has revealed the extent of biochemical disruption and compensatory mechanisms in disorders of sulphur amino acid metabolism. The removal of accumulating sulphite in patients with cPMP synthase deficiency (molybdenum cofactor deficiency type A) by cPMP substitution has created an opportunity to study the evolution of sulphite-related disease manifestations and has yielded new insights into the pathogenesis of sulphite intoxication disorders. This talk will focus on the utility of thiols as biomarkers of sulphite accumulation and the effectiveness of treatment attempts including dietary sulphur amino acid restriction, liver transplantation and cPMP substitution.