Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

E. Morava, S. B. Wortmann, H. Zweers van Essen, R. Liebrand van Sambeek, R. Wevers, O. P. van Diggelen

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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.

Original languageEnglish (US)
Pages (from-to)703-706
Number of pages4
JournalJournal of inherited metabolic disease
Issue number5
StatePublished - Jan 1 2005


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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