Mutations and Inborn Errors of Metabolism (1C) Practice Test

A toddler has recurrent kidney stones and hematuria. Urinalysis shows hexagonal crystals and elevated cystine. Genetic testing reveals a mutation in an apical renal transporter responsible for reabsorbing dibasic amino acids. Using the concept of loss of transport function leading to metabolite loss and precipitation, which outcome is most consistent?

A patient has progressive cardiomyopathy and skeletal muscle weakness. Enzyme assay shows deficiency of lysosomal acid b1-glucosidase, with glycogen accumulation in lysosomes. Using the concept of subcellular localization of metabolic degradation, which outcome is most consistent?