Lysosomal storage diseases

Question 1

Fabry disease

Answer 1

X-linked lysosomal storage disease caused by deficient alpha-galactosidase (ceramide trihexoside accumulates)

Angiokeratomas, cardiac and renal involvement, painful neuropathy

Question 2

Gaucher disease

Answer 2

Autosomal recessive lysosomal storage disease causd by deficient beta-glucocerebrosidase (glucocerebroside accumulates)

Gaucher cells (“crumped-tissue” macrophages), hepatosplenomegaly, pancytopenia, severe bone and joint pain

Question 3

Hurler syndrome

Answer 3

Autosomal recessive lysosomal storage disease caused by deficient alpha-L-iduronidase (dermatan and heparan sulfate accumulate)

Gargoylism, corneal clouding, hepatosplenomegaly, developmental delay

Question 4

Hunter syndrome

Answer 4

X-linked lysosomal storage disease caused by deficient iduronate sulfatase (dermatan and heparan sulfate accumulate)

Milder form of Hurler syndrome without corneal clouding

Question 5

Niemann-Pick disease

Answer 5

Autosomal recessive lysosomal storage disease caused by deficient sphingomyelinase (sphingomyelin accumulates)

Hepatosplenomegaly, cherry-red spot in macula, foam cells, progressive neurodegeneration

Question 6

Tay Sachs disease

Answer 6

Autosomal recessive lysosomal storage disease caused by deficient beta-hexosaminadase A (GM2 ganglioside accumulates)

Cherry-red spot in macula, progressive neurodegeneration, abnormal startle reflex with accoustic stimuli, macrocephaly, no hepatosplenomegaly (in contrast to Niemann-Pick)

Question 7

Krabbe disease

Answer 7

Autosomal recessive lysosomal storage disease caused by deficient galactocerebrosidase (galactosylsphingosine and galactocerebroside accumulate)

Progressive neurodegeneration, optic atrophy

Question 8

Metachromatic leukodystrophy

Answer 8

Autosomal recessive lysosomal storage disease caused by deficient arylsulfatase A (cerebroside sulfate accumulates)

Muscle wasting, dementia, ataxia.