Lysosomal Storage Diseases

Question 1

Fabry disease: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 1

• X-linked
• alpha-galactosidase
• ceramide trihexoside sx
• angiokeratomas
• cardiac and renal involvement
• painful neuropathy

Question 2

Gaucher disease: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 2

• AR
• B-glucocerebrosidase
• glucocerebroside sx
• gaucher cells = “tissue paper”macs
• hepatosplenomegaly
• developmental delay

Question 3

Hurler syndrome: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 3

• AR
• a-L-iduronidase
• dermatan & heparan sulfate Sx
• gargoylism
• corneal clouding
• hepatosplenomegaly
• devolpmental delay

Question 4

Hunter syndrome: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 4

• X-linked recessive
• iduronidate sulfatase
• dermatan & heparan sulfate Sx
• milder hurler syndrome
• gargoylism
• NO corneal clouding
• hepatosplenomegaly
• devolpmental delay

Question 5

Niemann-Pick Disease: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 5

• AR
• sphingomyelinase
• sphingomyelin sx
• hepatosplenomegaly
• cherry-red macula spot
• foam cells (lipid-laden macs)
• progressive neurodegeneration

Question 6

Tay-Sachs Disease: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 6

• AR
• B-hexosaminidase A
• GM2 ganglioside sx
• NO hepatosplenomegaly
• cherry-red macula spot
• progressive neurodegeneration

Question 7

KrabbeDisease: inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 7

• AR
• galactocerebrosidase
• galactosylsphingosine & galactocerebroside Sx
• progressive neurodegeneration
• optic atrophy

Question 8

Metachromic leukodystrophy:inheritance, deficient enzyme, accumulated metabolite, presentation

Answer 8

• AR
• arylsulfatase A
• cerebroside sulfate sx
• muscle wasting
• dementia
• ataxia

Question 9

Pathways ==> lysosomal storage disease