Glycogen, Lysosomes

Front 1

Von Gierke's disease

Back 1

- Glycogen storage disease Type I
- G6Pase def [AR]
- fasting hypoglycemia
- HSM
- high glycogen in liver
- high blood lactate

Front 2

Pompe's disease

Back 2

- Glycogen storage disease Type II - AR
- Cardiac a-1,4 glucosidase def (acid maltase)
- cardiomegaly
- early death

Front 3

Cori's disease

Back 3

- Glycogen storage disease Type III - AR
- Debranching enzyme (a-1,6-glucosidase)
- short branches
- normal blood lactate

Front 4

McArdle's disease

Back 4

- Glycogen storage disease Type V
- muscle phosphorylase def
- high glycogen muscle
- painful muscle cramps

Front 5

Anderson's disease

Back 5

- branching enzyme def
- long chains of glycogen

Front 6

Fabry's disease

Back 6

- Lysosomal storage disease [XR] - Sphingolipidoses
- Finding: peripheral neuropathy of hands/ feet; angiokeratoma, cardiovascular/renal disease
- Def: a-galactosidase A
- Accum: Ceramide trihexoside

Front 7

Gaucher's disease

Back 7

- Lysosomal storage disease [AR] - Sphingolipidoses
- Finding: HSM, aseptic nec of femur, bone crises, tissue paper macs
- Def: glucocerebrosidase
- Accum: glucocerebroside

Front 8

Niemann-Pick disease

Back 8

- Lysosomal storage disease [AR] - Sphingolipidoses
- Finding: Progressive neurodegeneration, HSM, cerry red macula
- Def: Sphingomyelinase
- Accum: Sphingomyelin

Front 9

Tay Sachs disease

Back 9

- Lysosomal storage disease [AR] - Sphingolipidoses
- Finding: progressive neurodegeneration; developmental delay; cherry red macula, onion skin lysosomes, NO HSM (vs. Nieman Pick)
- Def: Hexosaminidase A
- Accum: GM2 ganglioside

Front 10

Sandhoff's disease

Back 10

Hexominidase A/B def

Front 11

Krabbe's disease

Back 11

- Lysosomal storage disease [AR] - Sphingolipidoses
- Finding: peripheral neuropathy, developmental delay, optic atrophy, globoid cells
- Def: Galactocerebrosidase
- Accum: Galactocerebroside

Front 12

Metachromatic leukodystropy

Back 12

- Lysosomal storage disease [AR] - Sphingolipidoses
- Finding: central peripheral demyelination with ataxia, dementia
- Def: Arylsulfatase A
- Accum: Cerebroside sulfate

Front 13

Hurler's syndrome

Back 13

- Lysosomal storage disease [AR] - Mucopolysaccharidoses
- Finding: developmental delay, gargoylism, airway obstruction, corneal clouding, HSM
- Def: a-L-iduronidase
- Accum: Heparan sulfate, dermatan sulfate

Front 14

Hunter's

Back 14

- Lysosomal storage disease [XR] - Mucopolysaccharidoses
- Finding: mild hurlers + aggressive behavior, no corneal clouding
- Def: Iduronate sulfatase
- Accum: Heparan sulfate, dermatan sulfate

Front 15

Lesch-Nyhan

Back 15

HGPRT deficiency
- gout
- neuropathy
- self-mutilation