title: Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
abstract: We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI. We also performed a review of the literature on the different etiologies of elevated lysosomal enzyme activities in serum or plasma. © 2016 Wiley Periodicals, Inc.
authors: National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.|Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.
authors: Carlos R
authors: CR
authors: Ferreira
authors: Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.
authors: Joseph M
authors: JM
authors: Devaney
authors: Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.
authors: Sean E
authors: SE
authors: Hofherr
authors: Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
authors: Laura M
authors: LM
authors: Pollard
authors: Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.|Division of Laboratory Medicine, Children's National Health System, Washington, District Of Columbia.
authors: Kristina
authors: K
authors: Cusmano-Ozog
mesh_terms: D015415:Biomarkers / Q000097:blood; D003937:Diagnosis, Differential; D004789:Enzyme Activation; D005260:Female; D005633:Fructose Intolerance / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D009081:Mucolipidoses / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D015415:Biomarkers
keywords: hereditary fructose intolerance; lysosomal enzyme activity; mucolipidosis; transferrin isoelectric focusing