myopathic forms
deficiency of enzymes in the musclesmuscular weakness
myopathic
mcardle's is myopathic or hepatic?
hepatic forms
inherited deficiency of hepatic enzymereduction in blood glucose
hepatic
Von Gierke's: myopathic or hepatic?
pompe disease
lysosomal glycogen disease
Von Gierke's Disease
type 1 glycogen storage disease
pompe disease
Type II glycogen storage disease
type I
Von gierkes disease
type II
pompe disease
type III
cori disease
Cori disease
Type III glycogen storage disease
type IV
Andersen disease
Andersen Disease (Type IV)
type IV glycogen storage disease
type V
mcardle disease
McArdle's disease
Type V glycogen storage disease
type VI
Hers disease
Hers disease
type VI glycogen storage disease
type VII
PFK disease - tauri disease
PFK disease Tauri
Type VII glycogen storage disorder
type VIII
phosphorylase kinase - disease
PK disease
Type VIII glycogen storage disorder
Von Gierke disease (type I)
Glucose-6-phosphatase deficiencyliver and kidneyHYPOglycemia
Glucose-6-phosphatase deficiencyliver and kidneyHYPOglycemia
Von Gierke disease (type I)
Pompe disease (type II)
Lysosomal a-1,4-glucosidase deficiency. Sxs: cardiomyopathy heart failure
Lysosomal a-1,4-glucosidase deficiency. Sxs: cardiomyopathy heart failure
Pompe disease (type II)
Cori disease (type III)
Debranching enzyme (a-1,6,-glucosidase) deficiency. muscle and liver Sxs: milder form of Type 1 (fasting hypoglycemia, elevated liver glycogen, etc)
Debranching enzyme (a-1,6,-glucosidase) deficiency. muscle and liver Sxs: milder form of Type 1 (fasting hypoglycemia, elevated liver glycogen, etc)
Cori disease (type III)
Andersen Disease (Type IV)
branching enzyme deficiencyliver and spleen long outer branches - cirrhosis of liverGBE1 gene
branching enzyme deficiencyliver and spleen long outer branches - cirrhosis of liverGBE1 gene
Andersen Disease (Type IV)
McArdle disease (type V)
Skeletal muscle glycogen phosphorylase deficiency. MUSCLE ONLYcramps with strenuous exercise
Skeletal muscle glycogen phosphorylase deficiency. MUSCLE ONLYcramps with strenuous exercise
McArdle disease (type V)
Hers Disease (Type VI)
deficient Hepatic glycogen phosphorylase
deficient Hepatic glycogen phosphorylase
hers disease type VI
PFK type VII - tauri disease
MUSCLE PFK deficiencymuscle weakness and cramps
MUSCLE PFK deficiencymuscle weakness and cramps
PFK type VII - tauri disease
PK type VIII - hemolytic anemia
LIVER PK deficiencymild hypoglycemina
LIVER PK deficiencymild hypoglycemina
PK type VIII - hemolytic anemia
type I von gierke
liver and kidney
Cori disease (type III)
muscle and liver
Andersen Disease (Type IV)
liver and spleen
McArdle's diseasePFK
muscle only
hers diseasePK
liver only
HYPOglycemia
what is a symptom associated with liver glycogen storage disease?
nocturnal gastric infusion of glucoseeating uncooked cornstarch - slower release and complex carbsAVOID fructose, galactose, sucrose
what is a treatment for von gierke's disease?
phosphorylase
degrades glycogen from the nonreducing ends of the glycogen molecule
autosomal recessive
glycogen storage disorders mode of inheritance
McArdle's disease
mutation in PYGM gene