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Glycogen storage disease
Glycogen Storage Disease
ORGANS AFFECTED
GI tract
Kidney
Liver
Liver and muscles (IIIa)
Liver only (IIIb)
Muscle
Nerve cells
Other tissues
Platelets
Striated muscle
White blood cells
CLINICAL SYNDROME
Bleeding disorder
Cardiomegaly
Diarrhea
Early morning drowsiness and fatigue
Fasting hypoglycemia and ketosis
Gout
Growth retardation
Heart failure
Hepatic cirrhosis beginning at several months of age; early liver failure
Hepatomegaly
Hepatomegaly or splenomegaly
Hyperlipidemia
Hypertriglyceridema
Hyperurcemia
Hypoglycemia
Hypotonia
Inflammatory Bowel Disease Symptoms
Ketonuria
Ketosis
Lacticacidosis
Mild hypoglycemia with hepatomegaly
Muscle fatigue beginning in adolescence
Neutropenia
Periodontal disease
Shortened P-R interval
Slow growth
Symmetric profound proximal limb girdle muscle weakness with early involvement of the diaphragm
Without Myopathy
Xanthomas
NEONATAL MANIFESTATIONS
Early morning drowsiness
Emesis
Fatigue
Feeding difficulties
Floppy infant appearance
Hepatomegaly
Hypertrophic cardiomyopathy
Hypoglycemia
Infections
Ketosis
Lacticacidemia
Liver may not be enlarged
Macroglossia
Occasionally seizures
Result :
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References :
Nelson Textbook of Pediatrics, 2-Volume Set, 21st Edition. https://www.eu.elsevierhealth.com/nelson-textbook-of-pediatrics-2-volume-set-9780323529501.html
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Disease A-Z
Health Topics
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
Pediatric Dermatology
View all topics
Featured Articles
Penile hygiene
Anal itching
Diabetic ketoacidosis
Urticaria (hives) and angioedema
Circumcision
Hypospadias
Kids Corner
Drugs & Calculators
Medical Calculators
Drug Calculators
Genetic Calculators
Growth Calculators
View all Calculators
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Eqipments
Diagnostic Aid
Consult & Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Week
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric Oncall Journal
Current Issue
All Issues
Advance Access
About the Journal
Submit Article
Books & Apps
Book Store
Pediatric Oncall
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