Storage Diseases Flashcards
symptoms: type I glycogen storage disease
Von Gierke’s: severe fasting hypoglycemia, glycogen accumulation in liver/hepatomegaly, high serum lactate
symptoms: type II glycogen storage disease
Pompe’s disease: Pump Cardiomegaly, systemic muscle and liver damage. Early death.
symptoms: type III glycogen storage disease
Cori’s disease: milder form of type I cause gluconeogenisis is intact. so no blood lactate
symptoms: type V glycogen storage disease
McArdle’s disease: Muscle. high glycogen in muscle but can’t break it down. cramps, myoglobinuria, exercise intolerance.
genetics of all glycogen storage disease
autosomal recessive
Lysosomal Storage disease: Fabry’s disease defect and accumulation
alpha-galactosidase A def, Ceramide trihexoside
Lysosomal Storage disease: Gaucher’s disease deficit and accumulated product
Glucocerebrosidease, glucocerebroside
Lysosomal Storage disease: Niemann-Pick’s disease deficit and accumulated product
Sphingomyelinase, Sphingomyelin
Lysosomal Storage disease: Taysach’s disease deficit and accumulated product
Hexosaminidase A, GM2 ganglioside
Lysosomal Storage disease: Krabbe’s disease deficit and accumulated product
galactocerebrosidease, galactocerebroside
Lysosomal Storage disease: Metachromatic leukodystrophy disease deficit and accumulated product
Arylsulfatase A, cerebroside sulfate
Lysosomal Storage disease: Hurler/Hunter’s syndrome deficit and accumulated product
alpha-L-iduronidase/Iduronate sulfatase, Heparan sulfate and dermatan sulfate
Fabry’s disease genetics and findings
peripheral neuropathy (pain hand/feet), angiokeratomas, CV/renal disease. X-linked recessive
Gaucher’s disease genetics and findings
Autosomal Recessive. Most common lyso storage. Hepatosplenomegaly, aseptic necrosis of the femur, bone crisis, macrophages that look like crumpled tissue paper
Niemann-Pick’s disease genetics and findings
Autosomal recessive: Cherry-red spot on macula + hepatosplenomegally, foam cells, neurodegeneration
Tay-Sach’s disease genetics and findings
Autosomal Recessive: cherry-red spot on macula but no hepatomegaly, lysosomes with onion skin, neurodegeneration
Krabbe’s disease genetics and findings
AR: development delay, optic atrophy, peripheral neuropathy, globoid cells
Metachromatic leukodestrophy genetics and findings
AR: Central and peripheral demyelination with ataxia and dementia
Hurler’s syndrome genetics and findings
AR: gargoylism, developmental dealy, corneal clouding, airway obstruction , hepatomegaly
Hunter’s syndrome genetics and findings
XR: mild version of hurlers but aggressive behavior and no corneal clouding
Names of defecets of glycogen storage diseases (4)
I: Von Gierke (Glucose-6-phosphatase) II: Pompe’s (Lysosomal alpha-1,4-glucosidase) III: Cori’s (debranching enzyme alpha-1,6-glucosidase) V: McArdle’s (Skeletal muscle myophosphorylase)
