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October 2014 Vol. 3 Issue
10
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Saleem TH
Hassan MH
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Global Advanced Research Journal
of Medicine and Medical Sciences (GARJMMS) ISSN: 2315-5159
October 2014 Vol. 3(10), pp.
281-290
Copyright © 2014 Global Advanced
Research Journals
Full Length Research Paper
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Glycogen storage
disease type-I among pediatric patients in Upper
Egypt
Tahia H.
Saleem1, Hamdy N. Eltalawy2,
Ahmed E. Ahmed3, Nagla H. Abu-faddan4,
Nahed A. Mohamed1*,
Ayat A Sayed1,
Yasser Gamal5 and Mohammed H. Hassan6
1Medical
Biochemistry Department, Faculty of Medicine-Assiut
University-Egypt.
2Neuropsychiatry
Department, Faculty of Medicine-Assiut
University-Egypt.
3Pediatric
Department, Qena Faculty of Medicine-South Valley
University-Egypt.
4Pediatric
Department , Faculty of Medicine- Assiut
University-Egypt.
5Pathology
Department, Faculty of Medicine-Assiut
University-Egypt.
6Medical
Biochemistry Department, Qena Faculty of
Medicine-South Valley University-Egypt.
*Corresponding Author E-mail:
nahed_eltamawy@yahoo.com; Phone: +2
01008381753
Accepted 27 September, 2014
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Abstract |
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The aim of this study was to identify the relative
frequency of pediatric patients with Glycogen
storage disease type-I (GSD-I) attending
outpatient's pediatric clinics or inpatients
pediatric departments of Assiut, Sohag and Qena
university hospitals, Upper Egypt. This case control
study was carried out on 40 pediatric patients, and
40 healthy age and sex matched subjects as a
control. Plasma level of lactate, biotinidase and
uric acid were determined by using commercially
available assay kit in both patient and control
groups. Liver biopsy for histopathological
examination and glucose-6-phosphatase (G6Pase) assay
for patients only when needed. Plasma level of
lactate, biotinidase and uric acid were
significantly higher of GSD-I patients than control.
The definite diagnosis of GSD-I patients was by
assay of G6Pase in the biopsied liver tissue
homogenates which showed statistically significant
lower level when compared with the control group.
The relative frequency of GSD-I in Upper Egypt is
5/100,000. It has to be kept in mind whenever
failure to thrive, hepatomegaly, fasting
hypoglycemia and raised aminotransferases are
present. Elevated plasma biotinidase is considered
better positive than negative in prediction of GSD-I
with higher sensitivity and low false negative rate.
Keywords:
GSD type I, Glucose-6-phosphatase, Biotinidase
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