Glucose: Inborn Errors of Metabolism Flashcards
1
Q
due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT)
A
galactosemia
2
Q
galactosemia effects to children
A
mental retardation
failure to thrive
galactosuria
3
Q
usually manifests with hepatomegaly, hypoglycemia lactic acidosis, and hyperuricemia
a. Hepatic glycogenoses
b. Muscle glycogenoses
A
a. Hepatic glycogenoses
4
Q
most common; presents with hypoglycemia, lactic acidosis, hyperuricemia
A
von Gierke’s disease
5
Q
Type Ia
A
von Gierke
6
Q
Type II
A
Pompe
7
Q
Type IIIa
A
Cori-Forbes
8
Q
Type IV
A
Andersen
9
Q
Type V
A
McArdle
10
Q
Type VI
A
Hers
11
Q
Type VII
A
Tarui
12
Q
Type XI
A
Fanconi-Bickel
13
Q
Glucose-6-phosphatase
A
Type Ia von Gierke
14
Q
Lysosomal acid alpha glucosidase
A
Type II Pompe
15
Q
Glycogen debranching enzyme (hepatic and muscle)
A
Type IIIa Cori-Forbes
