Innorn Errors Of Metabolism Flashcards
What is an inborn error
A genetically inherited disorder
What are inverted errors referred as
Inherited metabolic disease (IMD)
What is a fatty acid oxidation disorder
Impaired provision of energy especially during fasting
How can fatty acid oxidation be tested
Lab tests:
Low glucose
Low ketones
Very high free fatty acids
What is an amino acid disorder
Energy metabolism is not usually affected
Some enzyme defects are non pathogenic
How can you lab test for amino acid disorders
Amino acid in plasma or dried blood spot
Organic acids in urine
What is metabolism
A chemical or physical change undergone by a substance in a biological system
How can I born errors of metabolism manifest clinically (5)
Accumulation of substrate
Reduced product
Diversion of intermediates
Failure of Meg feedback
Failure of transport mechanisms
What is MCADD
Medium chain actyl-CoA dedydrogenase deficiency
What is MCADD
Medium chain actyl-CoA dedydrogenase deficiency
What is the treatment for fatty acid oxidation disorders
Avoid long periods of fasting
What are the two types of carbohydrate metabolism disorders
Galactose and fructose
What is affected in carb metabolism disorders
The liver and kidney as these sugars are activated by phosphorylation which causes metabolites which are toxic
What are signs of glycogen storage disease
High ketones
High lactate
Low glucose
What is PKU
Phenylketonuria
