GLYCOGEN STORAGE DISEASES Flashcards
NAME
TYPE 0
0a
0b
NAME
TYPE I
Ia von Gierke disease
Ib von Gierke Disease
NAME
TYPE II
Pompe disease
NAME
TYPE III
Cori/Forbes disease
(Type IIa-b)
NAME
TYPE IV
Amylopectinosis,
Andersen’s disease
NAME
TYPE V
McArdle disease
NAME
TYPE VI
Hers disease
NAME
TYPE VII
Tarui disease
NAME
TYPE IX
IXa
IXb
IXc
IXd
NAME
TYPE XI
Fanconi-Bickel
CLINICAL FEATURES
Hypoglycemia; hyperketonemia; early death
TYPE 0
CLINICAL FEATURES
Glycogen accumulation in liver and renal tubule cells
hypoglycemia;
lactic acidemia;
ketosis;
hyperlipemia
TYPE I
CLINICAL FEATURES
Accumulation of glycogen in lysosomes:
juvenile-onset variant, muscle hypotonia, death from heart failure by age 2; adult-onset variant, muscle dystrophy
TYPE II
CLINICAL FEATURES
Fasting hypoglycemia; hepatomegaly in infancy;
accumulation of characteristic branched polysaccharide (limit dextrin);
variable muscle weakness
TYPE III
CLINICAL FEATURES
Hepatosplenomegaly;
accumulation of polysaccharide with few branch points;
death from heart or liver failure before age 5
TYPE IV
CLINICAL FEATURES
Poor exercise tolerance;
muscle glycogen abnormally high (2.5-4%);
blood lactate very low after exercise
TYPE V
CLINICAL FEATURE
Hepatomegaly;
accumulation of glycogen in liver;
mild hypoglycemia;
generally good prognosis
TYPE VI
CLINICAL FEATURES
Poor exercise tolerance;
muscle glycogen abnormally high (2.5-4%);
blood lactate very low after exercise;
also hemolytic anemia
TYPE VII
CLINICAL FEATURES
Hepatomegaly;
accumulation of glycogen in liver and muscle;
mild hypoglycemia;
generally good prognosis
TYPE IX
CLINICAL FEATURES
Hepatomegaly;
accumulation of glycogen in liver
TYPE X
CLINICAL FEATURES
Liver and kidney are affected, weak bones, small for age, renal dysfunction, generally good
TYPE XI
CLINICAL FEATURES
Myopathy, exercise intolerance, hemolytic anemia
TYPE XII
CLINICAL FEATURES
Exercise intolerance and myalgia
TYPE XIII
CLINICAL FEATURES
Cardiomegaly
TYPE XV
ENZYME DEFICIENCY
TYPE 0
Glycogen synthase
ENZYME DEFICIENCY
TYPE I
Glucose-6-phosphatase
ENZYME DEFICIENCY
TYPE II
Lysosomal α1 → 4 and α1 → 6 glucosidase (acid maltase)
ENZYME DEFICIENCY
TYPE III
Liver and muscle
debranching enzyme
ENZYME DEFICIENCY
TYPE IV
Glycogen Branching
enzyme
ENZYME DEFICIENCY
TYPE V
Muscle phosphorylase
ENZYME DEFICIENCY
TYPE VI
Liver phosphorylase
ENZYME DEFICIENCY
TYPE VII
Muscle and erythrocyte
phosphofructokinase 1
ENZYME DEFICIENCY
TYPE IX
Liver and muscle
phosphorylase kinase
ENZYME DEFICIENCY
TYPE X
Muscle phosphoglycerate
mutase
ENZYME DEFICIENCY
TYPE XI
Glucose transporter 2
ENZYME DEFICIENCY
TYPE XII
Aldolase A
ENZYME DEFICIENCY
TYPE XIII
Beta-enolase
ENZYME DEFICIENCY
TYPE XV
Glycogenin-1
