Innorn Errors Of Metabolism Flashcards
1
Q
What is an inborn error
A
A genetically inherited disorder
2
Q
What are inverted errors referred as
A
Inherited metabolic disease (IMD)
3
Q
What is a fatty acid oxidation disorder
A
Impaired provision of energy especially during fasting
4
Q
How can fatty acid oxidation be tested
A
Lab tests:
Low glucose
Low ketones
Very high free fatty acids
5
Q
What is an amino acid disorder
A
Energy metabolism is not usually affected
Some enzyme defects are non pathogenic
6
Q
How can you lab test for amino acid disorders
A
Amino acid in plasma or dried blood spot
Organic acids in urine
7
Q
What is metabolism
A
A chemical or physical change undergone by a substance in a biological system
