ABSTRACT
Patients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable biochemical alterations in blood. We studied the clinical and biochemical characteristics including the urinary oligosaccharide excretion of seven unrelated children. The urinary tetraglucoside excretion was increased in four children, three of whom had persistently high cholesterol and triglyceride concentrations. We propose screening for urine tetraglucoside excretion and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis.
Subject(s)
Blood Chemical Analysis/methods , Glucosides/metabolism , Glycogen Storage Disease/diagnosis , Phosphorylase Kinase/deficiency , 1-Propanol/chemistry , Biochemistry/methods , Butanols/chemistry , Cholesterol/blood , Cholesterol/metabolism , Chromatography, Thin Layer , Erythrocytes/cytology , Family Health , Female , Hemoglobins/metabolism , Heterozygote , Humans , Male , Oligosaccharides/chemistry , Oligosaccharides/urineABSTRACT
Earlier we described a simple and reliable screening procedure in urine for mucopolysaccharidoses based on the color reaction of glycosaminoglycans (GAGs) with dimethylmethylene blue. At physiological concentrations of urinary protein, we observed an obvious interference by protein in the assay. By modifying the assay, we abolished the protein interference. The modified procedure is not disturbed by human serum albumin, IgG (both tested with as much as 5 g/L of protein), or urinary proteins. The modified procedure appeared as reliable as the original. No false-negative results were found in a series of 26 urine samples from patients with mucopolysaccharidoses (sensitivity 100%). In a series of 405 urine samples offered for metabolic screening, 24 samples with increased GAG content and normal GAG composition were seen (specificity 94%). The method may also be applicable for determining GAG in other body fluids or solutions containing protein.
