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Flashcards in biochemistry Deck (12)
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1

fasting hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly

Von Gierke's disease
Glucose 6 phosphate deficiency

2

baby with cardiomegaly and systemic damange--> early death

Pompe's disease
lysosomal alpha 1,4 glucosidase deficiency

3

fasting hypoglycemia
increased glycogen in liver
normal blood lactate

Cori's disease

debranching enzyme (alpha 1,6 glucosidase) deficiency

mild version of von gierke's

4

increased glycogen in muscle
painful muscle cramps
myoglobinuria with strenous exercise

Mc Ardles disease

skeletal muscle glycogen phosphorylase deficiency

5

peripheral neuropathy of hands and feet
angiokeratomas
CV and renal disease

build up of ceramide trihexoside

Fabry's disease

deficiency: alpha galactosidase
Xlinked recessive

6

Hepatosplenomegaly
aseptic necrosis of femur
bone crises

macrophages that look like crumpled tissue paper
build up of glucocerebroside

Gaucher's disease

deficiency: glucocerebrosidase
autosomal recessive

7

progressive neurodegeneration
hepatosplenomegaly
cherry red spot on macula foam cells

build up of sphingomyelin

Niemann-Pick disease

deficiency: sphingomyelinase
autosomal recessive

8

progressive neurodegeneration
developmental delay
cherry red spot on macula
lysosomes with onion skin

NO hepatosplenomegaly

buildup of GM2 ganglioside

Tay Sachs disease

deficiency: hexosamidase A
autosomal recessive

9

peripheral neuropathy
developmental delay
optic atrophy

buildup of galactocerebroside

Krabbe's disease

deficiency: beta galactoverebrosidase
autosomal recessive

10

central and peripheral demyelination with ataxia and dementia

build up of cerebrosidase sulfate

metachromatic leukodystropy

deficiency: Arylsulfatase A
autosomal recessive

11

developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly

build up of heparan sulfate, dermatan sulfate

hurler's syndrome

deficiency: alpha L iduronidase
autosomal recessive

12

developmental delay
gargoylism
airway obstruction
hepatosplenomegaly
aggressive behavior

build up of heparan sulfate, dermatan sulfate

hunters syndrome

deficiency: iduronate sulfate
autosomal recessive

Xlinked recessive