TY - JOUR
T1 - Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
AU - Morava, E.
AU - Wortmann, S. B.
AU - van Essen, H. Zweers
AU - van Sambeek, R. Liebrand
AU - Wevers, R.
AU - van Diggelen, O. P.
PY - 2005/1
Y1 - 2005/1
N2 - 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.
AB - 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.
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U2 - 10.1007/s10545-005-0095-9
DO - 10.1007/s10545-005-0095-9
M3 - Article
C2 - 16151901
AN - SCOPUS:25144508111
SN - 0141-8955
VL - 28
SP - 703
EP - 706
JO - Journal of inherited metabolic disease
JF - Journal of inherited metabolic disease
IS - 5
ER -