Gargus Flashcards
1
Q
Examples of aminoacidopathy?
A
PKU
MSUD
Homocystinuria
2
Q
Examples of Fatty acid oxidation defect?
A
MCAD
3
Q
Examples of glycogen storage disease?
A
von Gierkes
Pompe
4
Q
Examples of lysomal storage disease?
A
Tay Sachs
Fabry
Gaucher
5
Q
Example of mitochondrial disease?
A
MELAS
LHON
6
Q
Example of mucopolysaccharidoses?
A
Hunter
Hurler
7
Q
Example of organic acidemia?
A
Methylmalonic acidemia
8
Q
Example of peroxisomal disease?
A
Zellweger syndrome
9
Q
Urea cycle disorder?
A
OTC deficiency
10
Q
Alpha acid-glucosidase in disease?
A
Acid maltase
Pompe disease
11
Q
Enzyme in Tay Sachs?
A
Hexoaminidase A
12
Q
Enzyme in PKU?
A
Phenylalanine hydroxylase
13
Q
MELAS mutation?
A
mtDNA 3243 A->G mutation
MT-TL1 gene
tRNA (Leu)
14
Q
Intoxication phenotypes?
A
- amino acids
- organic acids
- ammonia / urea cycle
- sugars / sugar phosphates
15
Q
Energy deficient phenotypes?
A
- Lactic acidemias
- Peroxisomes
- Fatty acids
16
Q
Storage type phenotypes?
A
- glycogen storage
* lysosomal storage
