Usmle: Biochem: Glycogen Storage Diseases/lysosomal Storage Disease

Front 1

Name the findings and deficient enzyme for VON GIERKE'S DISEASE

Back 1

A Glycogen Storage Disease

1. Hepatomegaly, sever fasting hypoglycemia, ↑↑ liver glycogen, ↑ blood lactate

2. Glucose-6-Phosphatase

Front 2

Name the findings and deficient enzyme for POMPE'S DISEASE

Back 2

A Glycogen Storage Disease

1. Cardiomegaly and early death

2. Lysosomal alpha 1,4 glucosidase (acid maltase)

Front 3

Name the findings and deficient enzyme for CORI'S DISEASE

Back 3

A Glycogen Storage Disease

1. Mild form of Von Gierke's (Hepatomegaly, sever fasting hypoglycemia, ↑↑ liver glycogen) without the ↑ blood lactate

2. alpha 1,6 glucosidase (debranching enzyme)

Front 4

Name the findings and deficient enzyme for McARDLE'S DISEASE

Back 4

A Glycogen Storage Disease

1. ↑ glycogen in mm but can't break it down (painful mm cramps, myoglobinuria with strenuous exercise)

2. Skeletal mm glycogen phosphorylase

Front 5

Name the findings and deficient enzyme for FABRY'S DISEASE

Back 5

A Sphingolipidoses (X-rec)

1. Peripheral neuropathy, angiokeratomas, CV & renal disease

2. Lacks alpha-galactosidase-A so Ceramide trihexoside buids up

Front 6

Name the findings and deficient enzyme for GAUCHER'S DISEASE

Back 6

A Sphingolipidoses (most common, AR)

1. crumpled tissue paper macrophages, hepatosplenomegaly, ascepti femur necrosis

2. lacks Beta-glucocerebrosidase so glucocerebroside builds up

Front 7

Name the findings and deficient enzyme for NIEMANN-PICK DISEASE

Back 7

A Sphingolipidoses (AR)

1. Cherry red macula spot, foam cells, hepatosplenomegaly

2. Lacks sphingomyelinase, so sphingomyelin builds up

Front 8

Name the findings and deficient enzyme for TAY-SACHS DISEASE

Back 8

A Sphingolipidoses (AR)

1. Cherry red macula spot, onion skinning lysosomes, developmental delay and prog neurodegeneration

2. lacks Hexosaminidase A, so GM2 ganglioside builds up

Front 9

Name the findings and deficient enzyme for KRABBE'S DISEASE

Back 9

A Sphingolipidoses (AR)

1. Optic atrophy, globoid cells, peripheral neuropathy, developmental delay

2. Lacks Galactocerebrosidase, so galactocerebroside builds up

Front 10

Name the findings and deficient enzyme for METACHROMATIC LEUKODYSTROPHY

Back 10

A Sphingolipidoses (AR)

1. Cent/periph demyelination with ataxia and dementia

2. Lacks Arylsulfatase A so cerebroside sulfate builds up

Front 11

Name the findings and deficient enzyme for HURLER'S SYNDROME

Back 11

A Mucopolysaccharidoses (AR)

1. Corneal clouding, airway obstruction, gargoylism, developmental delay, hepatosplenomegaly

2. Lacks Alpha-L-iduronidase so heparan/dermatan sulfate accumulate

Front 12

Name the findings and deficient enzyme for HUNTER'S SYNDROME

Back 12

A Mucopolysaccharidoses (XRec)

1. Mild for of hurler's with AGRESSIVE behavior and no corneal clouding

2. Lacks iduronate sulfatase so heparan/dermatan sulfate accumulate