Glycogen/Lysosomal storage diseases Flashcards Preview

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Flashcards in Glycogen/Lysosomal storage diseases Deck (14):
1

glucose 6 phosphatase deficiency

von gierke = severe fasting hypoglycemia. increases liver glycogen

2

lysosomal a14 glucosidase (acid maltase) deficeincy

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

3

Debranchign enzyme deficeincy

Cori's disease = mild version of von gierke =

4

skeletal glycogen phosphoryase deficeincy

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

5

Inheritance pattern for ALL glycogen storage diseases

AUTOSOMAL RECESSIVE

6

Inheritance pattern for ALL lysosomal storage diseases

Autosomal recessive EXCEPT Fabry's (XLR)

7

a-galactosidase A deficeincy

Fabry's = ceramide trihexoside accumulation

8

glucocerebrosidase deficeincy

gaucher's = glucocerebroside accumulation

9

Sphingomyelinase deficeincy

Niemann-Pick disease = sphingomyelin accumulation

10

Hexosaminidase A deficeincy

Tay-Sach's disease = GM2 ganglioside accumulation

11

Galactocerebrosidase

Krabbe's disease = galactocerebroside accumulation

12

Arylsulfatase A

Metachromatic leukodystorphy = cerebroside sulfate

13

Cherry red-spot on macula

Niemann-pick or Taysachs

14

Clinical presentation Niemann-Pick

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