Glycogen Storage Disease in Pediatric Population
Journal Title: The Egyptian Journal of Hospital Medicine - Year 2018, Vol 70, Issue 9
Abstract
<strong>Introduction:</strong> The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases (GSD) most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common. <strong>Methodology:</strong> We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe’s disease, Cori Disease, Forbes disease, Andersen’s disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly. <strong>Aim:</strong> In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population. <strong>Conclusion: </strong> There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management.
Authors and Affiliations
Eman Helal
Keywords
Related Articles
- EP ID EP583700
- DOI -
- Views 89
- Downloads 0
An Assessment of Knowledge towards Complications of Sickle Cell Disease among General Population in Jeddah City
<strong>Background: </strong>Sickle cell disease (SCD) is an autosomal recessive disorder characterized by production of abnormal hemoglobin S, and it is associated with high morbidity and mortality. The highest prevalen...
Evaluation of the Relationship between Air Bubbles Depth and Pregnancy Rate in ICSI Cycles
Objective: to determine the relationship between embryo transfer outcome and the distance between fundal endometrial surface and air bubbles assessed by trans-abdominal ultrasound Design: Prospective (cohort) study Setti...
Assessment of Public Knowledge Regarding the Differences between Hyperthyroidism and Hypothyroidism
<strong>Background:</strong> Thyroid hormones play a pivotal role in the metabolism of human body. Changes of the thyroid gland activity manifest in nearly all body systems. Appropriate knowledge of the public about thyr...
Evaluation of Graded Transcutaneous Levator Muscle Recession with Mullerectomy for Treatment of Upper Eyelid Retraction in Dysthyroid Patients
<span>Purpose: </span><span>To evaluate the efficacy, advantages and disadvantages of graded transcutaneous levator muscle recession with mullerectomy for treatment of dysthyroid upper eyelid retraction.<br /> </span><sp...
The Relationship between Abdominal Aortic Calcification and Cardiac Abnormalities in Hemodialysis Patients
Background: Abdominal aortic calcification (AAC) is a marker of subclinical atherosclerotic disease and an independent predictor of subsequent vascular morbidity and mortality. Aim of the work: This study was conducted t...