title: Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.
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.
authors.affiliation: Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
authors.forename: E
authors.initials: E
authors.lastname: Morava
authors.forename: S B
authors.initials: SB
authors.lastname: Wortmann
authors.forename: H Zweers
authors.initials: HZ
authors.lastname: van Essen
authors.forename: R
authors.initials: R
authors.lastname: Liebrand van Sambeek
authors.forename: R
authors.initials: R
authors.lastname: Wevers
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
mesh_terms: D000433:1-Propanol / Q000737:chemistry; D001671:Biochemistry / Q000379:methods; D001774:Blood Chemical Analysis / Q000379:methods*; D000440:Butanols / Q000737:chemistry; D002784:Cholesterol / Q000097:blood / Q000378:metabolism; D002855:Chromatography, Thin Layer; D004912:Erythrocytes / Q000166:cytology; D005192:Family Health; D005260:Female; D005960:Glucosides / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006454:Hemoglobins / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D009844:Oligosaccharides / Q000737:chemistry / Q000652:urine; D010764:Phosphorylase Kinase / Q000172:deficiency*
chemical_list: D000440:Butanols; D005960:Glucosides; D006454:Hemoglobins; D009844:Oligosaccharides; D000433:1-Propanol; D002784:Cholesterol; D010764:Phosphorylase Kinase