GSD Flashcards
1
Q
Thin extremities, failure to thrive, short stature, round “doll” face,
skin xanthomas, retinal changes, severe hepatomegaly, hypoglycemic seizures, pancreatitis, progressive renal failure
- aka
A
Ia
Von Gierke
Glucose-6-Phosphatase
2
Q
Ib
A
- Glucose- 6-phosphatase
3
Q
_____: Glycogen debranching enzyme (in both liver and muscle)
- Aka
A
IIIa
- “Cori” or Forbes disease
4
Q
_____: Glycogen debranching enzyme in liver
A
IIIb
5
Q
_______: Glycogen phosphorylase (in liver).
- Aka
A
VI
1. Hers disease
6
Q
Phosphorylase kinase
(in liver and muscle)
A
IX
7
Q
Glycogen synthase
A
0
8
Q
GLUT 2
- Aka
A
XI
- Fanconi- Bickel syndrome
9
Q
Lysosomal acid alpha
glucosidase (GAA; acid maltase)
- Aka
A
II
1. Pompe disease
10
Q
_____: Glycogen branching
enzyme
1. Aka
A
IV
1. Anderson disease
11
Q
Muscle phosphorylase
- Aka
A
V
McArdle disease
12
Q
Phosphofructokinase
- Aka
A
VII
Tarui disease
13
Q
Phosphoglycerate kinase
A
Phosphoglycerate kinase deficiency
14
Q
- GSD IXd
- GSD X
- GSD XI
- GSD XII
- GSD XIII
A
- Muscle phosphorylase kinase (muscle specific)
- Phosphoglycerate,mutase M subunit
- Lactic acid dehydrogenase M subunit
- Fructose- 1,6-bisphosphate
aldolase A - Beta enolase deficiency
15
Q
- Defect of GSD XIV
- clinical features (2) - Defect of GSD V
- clinical features (2)
A
- Phosphoglucomutase 1 deficiency in muscle
- Exercise intolerance, rhabdomyolysis - Glycogenin 1 deficiency in muscle
- Muscle weakness, arrhythmias
