Fa: Biochem

Front 1

Glycogen storage diseases

(mnemonic)

Back 1

12 types

all result in abnormal glycogen metabolism and an accumulation of glycogen within cells

Von Gierke's Dz, Pompe's Dz, Cori's Dz, McArdle's Dz

Very Poor Carb Metabolism (mnemonic)

Front 2

Pt presents with severe fasting hypoglycemia, very high liver glycogen levels, high blood lactate levels, and hepatomegally. Which glycogen storage Dz do they have and what NZ is difficient?

Back 2

Von Gierke's Dz (type I)

Deficient in Glucose-6-phosphatase

Front 3

Sx: cardiomegally and systemic findings leading to early death

Which GSD and related NZ deficiency?

Back 3

Pompe's Disease (type II)

Deficiency: lysosomal alpha-1,4-glucosidase (acid maltase)

Front 4

Pt has a milder form of type I GSD, with normal blood lactate levels.

GSD and NZ?
And what was type I GSD again?

Back 4

Cori's Disease

Deficiency: Debranching NZ (alpha-1,6-glucosidase)
**GNG remains intact***

Type I = Von Gierke's disease

Front 5

Pt presents w/ painful muscle cramps and myoglobinuria with strenuous exercise. Labs show high glycogen in muscle, but can't break it down.

Which GSD and NZ?

Back 5

McArdle's disease

Deficiency: skeletal muscle glycogen phosphorylase

Front 6

Pt presents with peripheral neuropathy of the hands and feet. Has angiokeratomas on body. Has Hx of heart and renal disease.

Which lysosomal storage disease, NZ, and substrate accumulated?

Back 6

Fabry's disease (XR)
(sphingolipidoses)

Deficiency: alpha-galactosidase A

Substrate accumulated: cermide trihexoside

Front 7

Hepatosplenomegaly, aseptic necrosis of femur, bone crisis, macrophages that look like crumpled tissue paper

Which lysosomal storage disease, NZ, and substrate accumulated?

Back 7

Gaucher's disease (the MPs are called Gaucher's cells)
(sphingolipidoses)

Deficiency: beta-glucocerebrosidase

Accumulated substrate: glucocerebroside

Front 8

progressive neurodegeneration,
hepatosplenomegaly
cherry-red spot on macula
foam cells

Which lysosomal storage disease, NZ, and substrate accumulated?

Back 8

Neimann-Pick disease
(sphingolipidoses)

D: Sphingomyelinase

AS: Sphingomyelin

Front 9

Progressive neurodegeneration
developmental delay
cherry-red spot on macula
Lysosomes with onion skin
no hepatosplenomegally

Which lysosomal storage disease, NZ, and substrate accumulated?

Back 9

Tay-Sachs disease
(sphingolipidoses)

D: Hexosaminase A

AS: GM2 ganglioside

Front 10

Peripheral neuropathy
developmental delay
optic atrophy globoid cells

LSD, NZ, and accumulated substrate?

Back 10

Krabbe's disease
(sphingolipidoses)

Deficiency: Galactocerebrosidase

AS: Galactocerebroside

Front 11

Central and peripheral demyleination with ataxia
dementia

LSD, NZ, and accumulated substrate?

Back 11

Metachromatic leukodystrophy
(sphingolipidoses)

Deficiency: Arylsulfatase A

AS: cerebroside sulfate

Front 12

Developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly

LSD, NZ, and accumulated substrate?

Back 12

Hurler's Syndrome
(mucopolysaccaridosis)

Deficient NZ: alpha-L-iduronidase

AS: heparan sulfate, dermatan sulfate

Front 13

Sx milder than Hurler's + aggressive behavior
no corneal clousing

LSD, NZ, and accumulated substrate?

Back 13

Hunter's Syndrome - XR
(mucopolysaccharidosis)

Deficiency: Iduronate sulfatase

AS: Heparan sulfate, dermatan sulfate