Publications by authors named "Mary Sowa"
Nutrition management for GSD Type I (GSDI; OMIM #232200, 232220) is complex, with the goal being to maintain euglycemia while minimizing metabolic derangements. Management guidelines were published in 2002 and 2014. However, there is limited information on the nuances of nutrition management and the unique feeding challenges of children.
View Article and Find Full Text PDFBackground: Genetic Metabolic Dietitians International (GMDI) conducted a professional status survey of metabolic dietitians working in the United States to describe job satisfaction and establish salary and compensation benchmarks specific to metabolic dietitians.
Methods: The survey was anonymously administered in a web-based format via REDCap between October and November 2023. Registered dietitians working with inborn errors of metabolism (IEM) were eligible to participate.
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of phenylalanine (Phe) metabolism that results in the buildup of dietary Phe to potentially toxic levels. Poorly controlled Phe levels in women of childbearing age are particularly worrisome due to the toxic effect of elevated Phe on fetal development. Pegvaliase was recently approved as an enzyme substitution therapy to reduce Phe concentrations in adult patients with PAH deficiency who have suboptimal Phe control on existing management.
View Article and Find Full Text PDFBackground: Effects of circulatory arrest upon an inborn error of metabolism patient are unknown.
Methods: A retrospective chart review was performed of outcome and biochemical parameters obtained during palliative cardiac surgery for a mutase-deficient methylmalonic aciduria patient with Ebstein's cardiac anomaly was performed.
Results: The levels of ammonia, methylmalonic acid, free carnitine, and propionylcarnitine of the patient were improved.