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

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

Abstract

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

 

Related Articles


Original Research Articles
Elsawi NM, Omar HM, Hassan AA and Ahmed AM
Study of C- peptide and glycoslated hemoglobin in obese and obese with type 2 diabetes and its relation with lipid profile from Sohag Governarate-Egypt
Glo. Adv. Res. J. Med. Med. Sci. December 2014 Vol: 3(12): - [Abstract] [Full Text - PDF] (147 KB)
Ch.S. Rama Lakshmi, PC Rao, T Sreelatha, M.Madahvi G Padmaja PV Rao and A Sireesha
Manurial value of different vermicomposts and conventional composts
Glo. Adv. Res. J. Med. Med. Sci. February 2013 Vol: 2(2): - [Abstract] [Full Text - PDF] (130 KB)
Ragaa Hosny Mohamad1, Azza Mahmoud Farahat, Mohamad Gamil Abdel Moneim, Amal Mohamad El Bastawesy, Safaa Ahmed Salem
Therapeutic Value Of Camel Milk Supplemented With Echinacea Consumption By Albino Rat
Glo. Adv. Res. J. Med. Med. Sci. March 2015 Vol: 4(3): - [Abstract] [Full Text - PDF] (1,317 KB)
Awosan KJ, Ibrahim MTO, Arisegi SA, Ejimadu SP, Erhiano EE, Aderahman AT
Prevalence of metabolic syndrome and its components among civil servants in a metropolitan city in Northern Nigeria
Glo. Adv. Res. J. Med. Med. Sci. November 2013 Vol: 2(11): - [Abstract] [Full Text - PDF] (178 KB)
Momoh AO, Adebolu TT and Ogundare AO
The effects of fermented Liqour and methanol extract of Beniseeds on the Biochemical and liver functioning parameters of Albino rats
Glo. Adv. Res. J. Med. Med. Sci. October 2012 Vol: 1(6): - [Abstract] [Full Text - PDF] (142 KB)
Afrah M Al-Helli, Mustafa G Al-Abbassi, Mohamed A Al-Biaty
Effects of metformin, or metformin with omega 3 combination on serum leptin in Iraqi obese subjects
Glo. Adv. Res. J. Med. Med. Sci. November 2013 Vol: 2(2): - [Abstract] [Full Text - PDF] (664 KB)

Current Issue

Viewing Options

View Full Article - PDF
Download Full Article - PDF

Search for Articles

Tahia H Saleem on Google Scholar
Tahia H Saleem on Pubmed
Hamdy N Eltalawy on Google Scholar
Hamdy N Eltalawy on Pubmed
Ahmed E Ahmed on Google Scholar
Ahmed E Ahmed on Pubmed
Nagla H Abu-faddan on Google Scholar
Nagla H Abu-faddan on Pubmed
Nahed A Mohamed on Google Scholar
Nahed A Mohamed on Pubmed
Ayat A Sayed on Google Scholar
Ayat A Sayed on Pubmed
Yasser Gamal on Google Scholar
Yasser Gamal on Pubmed
Mohammed H Hassan on Google Scholar
Mohammed H Hassan on Pubmed

Statistics

Viewed 1155
Printed 198
Downloaded 233
Powered By iPortal Works