Fahim - Metabolic Dz Flashcards
1
Q
*Can not break down glycogen to glucose - 1 - Phosphate (G-1-P)
A
McArdle Disease
*Type V GSD
2
Q
*Deficient enzyme of McArdle’s disease
A
Glycogen phosphorylase
3
Q
- Femur avascular necrosis
- Causes Erlenmeyer flask deformity on Xray
A
Gaucher’s Dz
4
Q
- Muscle stiffness
- Elevated CPK
- Elevated uric acid levels
A
McArdles Dz
5
Q
Defective enzyme for Gaucher’s Dz
A
GlucocereBroSIDASE
6
Q
Enzyme buildup for Gaucher’s Dz
A
GlucocereBroSIDE
7
Q
Oh my Gauch, he’s such a Bro
A
Gaucher’s Dz
8
Q
Tissue paper cell on histology
A
Gaucher’s
9
Q
Lipid-laden macrophages resembling crumpled tissue paper.
A
Gaucher’s
10
Q
Most common lysosomal storage dz
A
Gaucher’s
11
Q
Tx is Vitamin B6
A
McArdle’s Dz
12
Q
Glycogen storage Dz
A
McArdle’s
13
Q
Deficient PAH
A
Phenylketonuria (PKU)
14
Q
- Elevated Phenylalanine
- Elevated Tyrosine
A
PKU
15
Q
Pale, developmental delay, Musty, seizures
A
PKU
16
Q
Broken femurs and pancytopenia
A
Gaucher’s
