Glycogen Storage Diseases And Lysosomal Storage Disease

Front 1

Patient presents with severe fasting hypoglycemia, increase in blood lactate levels, and increased glycogen in the liver. Physical exam shows hepatomegaly. Which enzyme is deficient? Also, explain the Hyperuricemia and HyperLipidemia

Back 1

Glucose 6 Phosphatase (Von Gierk's Disease)- G6P builds up, gets shunted to glycolysis (increase of lactic acid), also, glycolysis provides excess substrates for FA and TG Synthesis, and also, increases the HMP Shunt, so you get increased Ribose (increased purines) and hyperuricemia

Front 2

Patient comes in with glycogen accumulation in lysosomes. Blood glucose in normal. What would you expect to see on physical exam? And what Enzyme is deficient?

Back 2

Cardiomegaly on physical exam, and the enzyme deficient is Lysosomal Alpha 1,4 Glucosidase.
(Pompei's Disease)

Front 3

Patient comes in with mild hypoglycemia, and normal blood lactate levels. Which enzyme is deficient, and what is accumulated?

Back 3

Enzyme deficient is Debranching Enzyme alpha 1,6 glucosidase. Accumulation of Limit Dextrin. This is Cori's Disease

Front 4

Patient comes in with muscle cramps and myoglobinuria after exercise. No rise in lactate levels, but high amounts of glycogen in muscle. What enzyme is deficient?

Back 4

Skeletal Muscle Glycogen Phosphorylase - this is McCardle's Disease

Front 5

Patient comes in with peripheral neuropathy of hands and feet, non-blanching erythametous nodules between the belly button and knee, and enzyme assay shows deficiency of alpha-glactosidase A. What is the accumulated substance, and what is the mode of inheritance?

Back 5

Accumulated Substance: Ceramide Trihexoside. Inheritance (sex linked recessive) (Fabry's Disease)

Front 6

Patient comes in with Hepatosplenomegaly, and necrosis of the femur that shown no bacteria. What is the deficient Enzyme, histological finding, accumulated substance, and mode of inheritance

Back 6

Deficient Enzyme: Beta Glucocerbrosidase
Histological Finding: Macrophage with crumpled/wrinkled cytoplasm.
Accumulated Substance: Glucocerbrosidase
Inheritance: Autosomal Recessive
(Gaucher's Disease)

Front 7

At birth, Patient comes in with a cherry red spot on their macula, and progressive neurodegeneration, hepatosplenomegaly. What is the deficient enzyme, accumulated substance, mode of inheritance, and histological finding?

Back 7

Deficient Enzyme: Shingomyelinase
Accumulated Substance: Sphingomyelin
Mode of inheritance: Autosomal Recessive
Histological Finding: Macrophage with soap bubble appearance
(Neimann Pick Disease)

Front 8

Patient who was normal at birth comes in with progressive neurodegeneration, cherry red spot on macula, and lysosomes with onion skin marks. What is the deficient enzyme, accumulated substance, and mode of inheritance

Back 8

Deficient Enzyme: Hexosaminidase A
Accumulated Substance: GM2-ganglioside
Mode of Inheritance: Autosomal Recessive
(Tay Sachs Disease)

Front 9

Patient comes in with peripheral neuropathy, globoid cells and lack of myelin, and optic atrophy. What is the deficient enzyme, accumulated substance, and mode of inheritance

Back 9

Deficient Enzyme: Galactocerbrosidase
Accumulated substance: Galactocerebroside
Mode of Inheritance: Autosomal Recessive
(Krabbe's Disease)

Front 10

Patient comes in with inability to undergo oxidation of Very long chain fatty acids. Patient has loss of myelin and adrenal insufficiency. What cellular organelle is there a problem with, and what is the mode of inheritance, and accumulated substance

Back 10

Problem in: Peroxisomes
Mode of Inheritance: X-linked Recessive
Accumulated Substance: Long Chain Fatty Acids
(Adrenoleukodystrophy)

Front 11

Patient comes in with ataxia and peripheral neuropathies, as well as dementia. What is the deficient enzyme, accumulated substance, and mode of inheritance?

Back 11

Deficient Enzyme: Arylsulfatase A
Accumulated Substance: Cerebroside Sulfate
Mode of Inheritance: Autosomal Recessive
(Metachromatic Leukodystrophy)

Front 12

Patient comes in with developmental delay, coarse facial features, hearing loss, and clouding of the cornea and hepatosplenomegaly. What is the deficient enzyme, accumulated substance, and mode of inheritance?

Back 12

Deficient Enzyme: Alpha-L-iduronidase
Accumulated Substance: Heparan sulfate, dermatan sulfate
Mode of inheritance: Autosomal Recessive
(Hurler's Syndrome)

Front 13

Patient comes in with Hearing loss, aggressive behavior, and absence of corneal clouding. What is the deficient enzyme, accumulated substance, and mode of inheritance?

Back 13

Deficient Enzyme: Iduronate Sulfatase
Accumulated Substance: Heparan sulfate, dermatan sulfate
Mode of Inheritance: X-linked Recessive
(Hunter's Syndrome)