Tables to memorize Flashcards
What is the enzyme deficiency for GSD type I?
Glucose-6-phosphatase
What is the eponym for GSD type I?
Von Gierke’s disease
What is the enzyme deficiency for GSD type II?
Acid maltase
What is the eponym for GSD type II?
Pompe’s disease
What is the enzyme deficiency for GSD type III?
glycogen debrancher
What is the eponym for GSD type III?
Cori’s disease or Forbe’s disease
What is the enzyme deficiency for GSD type IV?
Glycogen branching enzyme
What is the eponym for GSD type IV?
Andersen Disease
What is the enzyme deficiency for GSD type V?
Muscle glycogen phosphorylase
What is the eponym for GSD type V?
McArdle disease
What is the enzyme deficiency for GSD type VI?
Liver glycogen phosphorylase
What is the eponym for GSD type VI?
Hers’ disease
What is the enzyme deficiency for GSD type VII?
muscle phosphofructokinase
What is the eponym for GSD type VII?
Tarui’s disease
What is the enzyme deficiency for GSD type VIII?
Now classified with type VI (liver glycogen phosphorylase) has been described as X-linked recessive
What is the enzyme deficiency for GSD type IX?
Phosphorylase kinase, PHKA2
What is the enzyme deficiency for GSD type X?
Now classified with VI (liver glycogen phosphorylase)
What is the enzyme deficiency for GSD type XI?
Flucose transporter, GLUT 2
What is the eponym for GSD type XI?
Fanconi-Bickel syndrome
What is the enzyme deficiency for GSD type 0?
glycogen synthase
What is the associated disorder of the autoantibody antinuclear antibodies (ANA)?
SLE
What is the associated disorder of the autoantibody Anti-dsDNA, anti-smith?
Specific for SLE
What is the associated disorder of the autoantibody antihistone?
Drug-induced lupus
What is the associated disorder of the autoantibody Anti-IgG (rhematoid factor)
Rheumatoid arthritis