Storage Diseases (Lysosomal + Glycogen)

Question 1

Fabry Disease:

Deficient enzyme? Accumulated metabolite? Symptoms? Inheritance?

Answer 1

a-galactosidase deficiency.
Ceramide trihexoside buildup.
Angiokeratomas, Cardiac+Renal probs, painful neuropathy.
X-linked recessive.

Question 2

Gaucher disease

Answer 2

B-glucocerebrosidase deficeincy.
Glucocerebroside buildup.
Gaucher cells (crumple tissue paper macros), hepatosplenomegaly, pancytopenia, severe bone+joint pain.
AR

Question 3

Hurler syndrome

Answer 3

a-L-iduronidase deficiency.
Dermatan & heparan sulfate buildup.
Gargoylism, corneal clouding, hepatosplenomegaly, develop delay.
AR

Question 4

Hunter syndrome

Answer 4

iduronate sulfatase deficiency.
Dermatan and heparan sulfate buildup.
Hurlers but w/o corneal clouding and X-linked Recessive (Still have gargoylism, hepatosplenomegaly, develop delay).

Question 5

Niemann-Pick disease

Answer 5

Sphingomyelinase deficiency.
Sphingomyelin buildup.
Hepatosplenomegaly, cherry-red spot in macula, foam cells, progressive neurodegeneration.
AR.

Question 6

Tay Sachs disease.

Answer 6

B-hexosaminidase A deficiency.
GM2 ganglioside buildup.
Cherry-red spot in macula, progressive neurodegeneration, NO HEPATOSPLENOMEGALY (differentiates from N-Pick).
AR

Question 7

Krabbe disease

Answer 7

Galactocerebrosidase deficiency.
Galactosyl-sphingosine & galactocerebroside builduip.
Progressive neurodegeneration and optic atrophy.
AR

Question 8

Metachromatic leukodystrophy.

Answer 8

Arylsulfatase A deficiency.
Cerebroside sulfate buildup.
Muscle wasting, dementia, ataxia.
AR

Question 9

von Gierke disease (Type I)

Answer 9

glucose-6-phosphatase deficiency.
Glycogen buildup in LIVER.
Only affects LIVER because that’s the only location G6P should be. Hepatic steatosis.

Question 10

Pompe disease (Type II)

Answer 10

lysosomal a-1,4-glucosidase deficiency.
Glycogen buildup in lysosomes.
Severe cardiomegaly, normal serum glucose

Question 11

McArdles (Type V)

Answer 11

Glycogen phosphorylase deficiency.
Glycogen buildup in Muscle.
weakness+pain w/ exercise. Low lactate. Myoglobinuria. Symptoms improve with glucose infusion.

Question 12

Cori disease

Answer 12

debranching enzyme deficiency (cant degrade a-1,6).

Dextrin buildup in hepatic cytosol.

Question 13

Cerebroside sulfate accumulation?

Answer 13

Metachromatic leukodystrophy. Arylsulfatase A deficient

Question 14

Angiokeratomas, cardiac+renal probs, painful neuropathy =?

Answer 14

fabry disease, a-galactosidase deficient, ceramide trihexoside builduip

Question 15

Gargoylism, corneal clouding, hepatosplenomegaly, developmental delay =?

Answer 15

hurler syndrome because there is corneal clouding.
a-L-iduronidase deficiency (heparan sulfate buildup).

Without corneal clouding it would be hunter syndrome

Question 16

Cherry-red macula, progressive neurodegeneration=?

Answer 16

Tay Sachs because no hepatosplenomegaly (would be Niemann-Pick if it had it).

Question 17

Glucocerebroside buildup with macrophages that look like crumpled tissue paper?

Answer 17

Gaucher disease (crumple tissue paper macros are called Gaucher cells). Also have hepatosplenomeg, pancytopenia, severe bone+joint pain.

Question 18

Glucocerebroside buildup w/ progressive neurodegeneration and optic atrophy?

Answer 18

Krabbe disease. Deficient galactocerebrosidase.

Question 19

GM2 ganglioside buildup=?

Answer 19

TaySachs?

Question 20

Is there hepatosplenomegally w/ sphingomyelin buildup?

Answer 20

Yes. Niemann Pick

Question 21

What is inheritance pattern of heparan sulfate buildup when there is no corneal clouding?

Answer 21

Hunter syndome is X-linked recessive

Question 22

Patient presents w/ muscle wasting, dementia and ataxia =?

Answer 22

metachromatic leukodystrophy

Question 23

Gargoylism, hepatosplenomegaly, developmental delay=?

Answer 23

Hunter syndrome (no corneal clouding). Iduronate sulfatase deficiency

Question 24

8-month old girl w/ regression of motor skills, startles to noise, loss of peripheral vision w/ abnormal red circular area of choroid at fovea centralis surrounded by white macula. Abdominal exam normal. Which metabolite accumulated?

Answer 24

GM2 ganglioside because this is TaySachs (cherry-red spot wOUT hepatosplenomegaly). B-hexosaminidase A deficiency.