Glycogen/Lysosomal storage diseases

Question 1

glucose 6 phosphatase deficiency

Answer 1

von gierke = severe fasting hypoglycemia. increases liver glycogen

Question 2

lysosomal a14 glucosidase (acid maltase) deficeincy

Answer 2

Pompe’s = poor breakdown of glycogen in lysosomes. = Heart, Liver and muscle failure.

Question 3

Debranchign enzyme deficeincy

Answer 3

Cori’s disease = mild version of von gierke =

Question 4

skeletal glycogen phosphoryase deficeincy

Answer 4

can’t use glycogen in muscles = exercise intolerance (myoglobinuria w/ exercise) painful muscle cramps.

Question 5

Inheritance pattern for ALL glycogen storage diseases

Answer 5

AUTOSOMAL RECESSIVE

Question 6

Inheritance pattern for ALL lysosomal storage diseases

Answer 6

Autosomal recessive EXCEPT Fabry’s (XLR)

Question 7

a-galactosidase A deficeincy

Answer 7

Fabry’s = ceramide trihexoside accumulation

Question 8

glucocerebrosidase deficeincy

Answer 8

gaucher’s = glucocerebroside accumulation

Question 9

Sphingomyelinase deficeincy

Answer 9

Niemann-Pick disease = sphingomyelin accumulation

Question 10

Hexosaminidase A deficeincy

Answer 10

Tay-Sach’s disease = GM2 ganglioside accumulation

Question 11

Galactocerebrosidase

Answer 11

Krabbe’s disease = galactocerebroside accumulation

Question 12

Arylsulfatase A

Answer 12

Metachromatic leukodystorphy = cerebroside sulfate

Question 13

Cherry red-spot on macula

Answer 13

Niemann-pick or Taysachs

Question 14

Clinical presentation Niemann-Pick

Answer 14

Progressive neurodegeneration (hypotonia); hepatosplenomegaly; Foamy histiocytes, Cherry-red spot on macula can lead to blindness