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

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)703-706
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number5
DOIs
StatePublished - Jan 1 2005
Externally publishedYes

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Glycogen Storage Disease
Hepatomegaly
Cholesterol
Growth
Oligosaccharides
Triglycerides
Urine
Serum
Glycogen Storage Disease Type Ix

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. / Morava-Kozicz, Eva; Wortmann, S. B.; van Essen, H. Zweers; van Sambeek, R. Liebrand; Wevers, R.; van Diggelen, O. P.

In: Journal of Inherited Metabolic Disease, Vol. 28, No. 5, 01.01.2005, p. 703-706.

Research output: Contribution to journalArticle

Morava-Kozicz, Eva ; Wortmann, S. B. ; van Essen, H. Zweers ; van Sambeek, R. Liebrand ; Wevers, R. ; van Diggelen, O. P. / Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. In: Journal of Inherited Metabolic Disease. 2005 ; Vol. 28, No. 5. pp. 703-706.
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