Lysosomal Storage Diseases

Question 1

Fucosidosis

Answer 1

Alpha-L-fucosidase

ESS

Question 2

Mannosidosis

Answer 2

Alpha-mannosidase
DSH, DLH, Persian, Aberdeen-Angus cattle, Murray grey cattle, Galloway cattle

Beta-mannosidase
Nubian goat, salers calves

Question 3

Galactosialidosis

Answer 3

Neurominidase-beta-galactosidase

Schipperke dog

Question 4

GM1 gangliosidosis

Answer 4

Beta-galactosidase

Siamese, DSH, Korat , ESS, beagle, PWD, Frisian cattle, Suffolk cross sheep

Question 5

GM2 gangliosidosis

Answer 5

Beat-hexosaminidase

DSH, Korat, Pointer dog, Yorkshire pigs

Activator protein
Japanese spaniel

Question 6

Globoid cell leukodystrophy

Answer 6

Beta-galactocerebrosidase

WHWT, cairns terrier, beagle, poodle, DSH, Dorset sheep

Question 7

Gaucher’s disease

Answer 7

Glucocerebrosidase

Sydney silky terrier

Question 8

Neimann-Pick disease

Answer 8

Sphingomyelinase cholesterol esterification

Balinese, Siamese, boxer, DSH

Question 9

MPSI - Hunter

Answer 9

Alpha-L-iduronidase

DSH, Plott hound

Question 10

MPSII - Hurler

Answer 10

Iduronate-2-sulfatase

Labrador retrievers

Question 11

MPSIII -San Filippo

Answer 11

Sulfamidase

Wire haired dachshund, Nubian goat

Question 12

MPSVI - Marteaux-Lamy

Answer 12

Arylsulfatase B

Siamese

Question 13

MPSVII -Sly

Answer 13

Beta-glucuronidase

MBD

Question 14

Type Ia oligosaccharidosis

Von Gierke

Answer 14

Glucose-6-phosphatase

Canine toy breeds

Question 15

Type II oligosaccharidosis

Pompe

Answer 15

Alpha-1,4-glucosidase

Lapland dog, DSH, shorthorn beef cattle, Brahma, corriedale sheep

Question 16

Type III oligosaccharidosis

Cori

Answer 16

Amylo-1,6,-glucosidase

GSD, Akita

Question 17

Type IIIa oligosaccharidosis

Answer 17

Glycogen debranching enzyme

Curly coated retriever

Question 18

Type IV oligosaccharidosis

Anderson

Answer 18

Glycogen branching enzyme

Norwegian forest cat

Question 19

Type VII oligosaccharidosis

Answer 19

Phosphofructokinase

ESS, American cocker spaniels

Question 20

Ceroid lipofuscinoses

Answer 20

Range of defects

Many dog breeds, Siamese, devone cattle, south hampshire, borderdale, Rambouillet sheep, Nubian goat

Question 21

L-2-hydroxyglutaric aciduria

Answer 21

WHWT, staffordshire bull terrier

L-2-hydroxyglutaric acid dehydrogenase gene

Question 22

Methymalonic/malonic aciduria

Answer 22

Labrador retrievers

Question 23

Maple syrup urine disease

Answer 23

Hereford - autosomal recessive

Red Poll cattle - branched chain keto acid decarboxylase deficiency

Question 24

Citrullinemia

Answer 24

Holstein-Friesian cattle

Question 25

Late-onset cerebellum cortical atrophy

Answer 25

``` Gordon setter OES Scottish terrier American staffordshire terrier Brittany spaniel ```

Question 26

SERAC1 gene

Answer 26

Mutation in Kerry blue terrier and Chinese created for canine multiple systems degeneration

Question 27

Vertebral formula horse

Answer 27

C7 T 18 L5-6 S5

Question 28

Vertebral formula cow

Answer 28

C7 T13 L6 S5

Question 29

Anticlinal vertebra

Answer 29

T11