20 - Disease

Question 1

Hurler syndrome (MPS I)
Faulty enzyme,accumulating product, main organs affected?

Answer 1

Alpha-L-iduronidase
Dermal sulphate
Skeleton and nervous system

Question 2

Pompe

Faulty enzyme,accumulating product, main organs affected?

Answer 2

Alpha-1,4-Glucosidase
Glycogen
Skeleton and nervous system

Question 3

Tay-Sachs

Faulty enzyme,accumulating product, main organs affected?

Answer 3

Beta-hexosaminidase
GM2 ganglioside
Nervous system

Question 4

Gaucher

Faulty enzyme,accumulating product, main organs affected?

Answer 4

Glucocerebrosidase
Glucosylceramide
Liver and spleen

Question 5

I-cell disease

Faulty enzyme,accumulating product, main organs affected?

Answer 5

Phosphotransferase for M6P formation
Lysosomal hydrolyses are absent in lysosomes
Skeleton and nervous system

Question 6

Peroxisome

Answer 6

Specialized to degrade toxic reactive oxygen molecules

Converts h2O2 to O2 and water

Question 7

Where are peroxisomes important?

Answer 7

Hepatocytes

Detoxification of ingested alcohol