Glycogen Storage Diseases Flashcards
Von Gierke Disease (Type I)
AR; Glucose-6-phosphatase deficiency; severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hyperuricemia
Pompe Disease (Type II)
AR; Lysosomal α-1,4-glucosidase deficiency; cardiomegaly, hypotonia, exercise intolerance, early death (infantile form)
Cori Disease (Type III)
AR; Debranching enzyme deficiency; mild hypoglycemia, hepatomegaly, accumulation of limit dextrin-like structures in cytosol
Andersen Disease (Type IV)
AR; Branching enzyme deficiency; hepatosplenomegaly, progressive cirrhosis, failure to thrive, early childhood death
McArdle Disease (Type V)
AR; Myophosphorylase deficiency; muscle cramps, myoglobinuria with exercise, second-wind phenomenon
Hers Disease (Type VI)
AR; Liver phosphorylase deficiency; mild fasting hypoglycemia, hepatomegaly, growth retardation
Tarui Disease (Type VII)
AR; Muscle phosphofructokinase deficiency; exercise intolerance, hemolytic anemia, muscle cramps
Fanconi-Bickel Syndrome (Type XI)
AR; GLUT2 transporter defect; glycogen accumulation in liver and kidney, fasting hypoglycemia, rickets-like presentation
Glucose-6-phosphatase Deficiency
Von Gierke Disease (Type I)
Lysosomal α-1,4-glucosidase Deficiency
Pompe Disease (Type II)
Debranching Enzyme Deficiency
Cori Disease (Type III)
Branching Enzyme Deficiency
Andersen Disease (Type IV)
Myophosphorylase Deficiency
McArdle Disease (Type V)
Liver Phosphorylase Deficiency
Hers Disease (Type VI)
A 3-month-old infant presents with severe fasting hypoglycemia, hepatomegaly, lactic acidosis, and hyperuricemia. What is the diagnosis?
Von Gierke Disease (Type I)
An infant is found to have cardiomegaly, hypotonia, and exercise intolerance. The patient dies early due to heart failure. What is the likely glycogen storage disease?
Pompe Disease (Type II)
A child presents with mild hypoglycemia, hepatomegaly, and accumulation of limit dextrin-like structures in the cytosol. What is the diagnosis?
Cori Disease (Type III)
A young child has hepatosplenomegaly, progressive cirrhosis, and failure to thrive. The condition is fatal in early childhood. What is the most likely diagnosis?
Andersen Disease (Type IV)
A patient complains of muscle cramps and myoglobinuria following exercise. They experience a ‘second-wind phenomenon’ during activity. What is the diagnosis?
McArdle Disease (Type V)
A child is found to have mild fasting hypoglycemia, hepatomegaly, and growth retardation. What glycogen storage disease is most likely?
Hers Disease (Type VI)
A patient has exercise intolerance, hemolytic anemia, and muscle cramps. Deficiency of muscle phosphofructokinase is suspected. What is the disease?
Tarui Disease (Type VII)
Deficiency of lysosomal acid maltase causes
Pompe disease. Without this enzyme, the conversion of glycogen to glucose in the lysosome cannot be completed and glycogen buildup becomes toxic to numerous cells, predominantly skeletal and cardiac muscle cells. Pompe disease does not present with hypoglycemia because glycolysis and gluconeogenesis do not depend on lysosomal glycogenolysis.
Myophosphorylase deficiency causes _____________, which can cause fatigue and weakness.
McArdle disease
Deficiency of glucose-6-phosphatase causes
von Gierke disease
