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J Inherit Metab Dis. 2005;28(5):703-6.

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

Author information

  • 1Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl

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.

PMID:
16151901
[PubMed - indexed for MEDLINE]
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