الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
GSDs are inherited IEM involving carbohydrate metabolism. IEMs are mainly caused by mutations of single gene that encode specific proteins, these diseases may be firstly manifested in neonates or early childhood. Depending on the specific type, they can result from a failure to convert glycogen into energy and/or a toxic glycogen accumulation. These diseases are due to a failure to use or store glycogen. Twentyfour newborns, infants and children suspected of having GSDs in period of (September, 2021 -2023) who had symptoms of GSDs, hypoglycemia, hepatomegaly, doll like facies with or without cardiac affection were subjected to clinical evaluation and complete examination. Routine laboratory tests for GSDs, enzyme assay, molecular diagnosis was also done. Twenty patients were from rural area (83.3%) and (75%) of patients were outcome of consanguineous marriage. Five patients died during course of our study because of pneumonia and cardiorespiratory failure, four of them were IOPD which represented (66.7%) of patients with IOPD and one was FBS which represented fourth of patients with FBS. Pompe disease could be presented by variable clinical phenotypes which are grading from severely progressive infantile form which could be lethal to a slowly progressive late-onset form. Its clinical course is largely dependent on the type of genetic mutation and the resulting level of residual GAA activity, and hence different age of onset, severity and system affection. The median age of initial diagnosis as awhole was around 90 days with statistically significant difference among subtypes of GSDs being early in GSD type II (10 days), late in GSDs I, III, XI (90,120,135 days respectively). Median age of all patients at time of this study was two years. Median age of patients which were diagnosed IOPD at time of this study was 1.5 years (0.5-2 year). At time of diagnosis, weight was ≤5th centile in 37.5% of patients and it was between 5 th -10th centile in 33.3% of patients and it was >10th centile in 29.2% of patients, height was ≤5th in 16.7% of patients and it was between 5th -10th centile in 20.8% of patients and it was >10th centile in 62.6%, head circumference was between 5th -10th centile in 8.4% and it was >10th centile in 91.6 % of patients. After six months of follow up, weight was ≤5th centile in 33.3 % of patients and between 5th-10thcentile in 37.5% of patients and it was > 10th centile in 29.2 % of patients, height was ≤5th in 25% of patients, it was between 5th -10th centile in 29.1% of patients, it was > 10 th centile in 45.83%, head circumference was between 5th -10th centile in 8.4% and it was > 10th centile in 91.6% of patients.