Inborn errors of metabolism Flashcards
What are inborn errors of metabolism?
Genetically inherited disorders due to missing proteins or enzymes
What are the mechanisms for inborn errors of metabolism
- Accumulation of substrate
- Reduced product
- Failure of negative feedback loop
What is the clinical diagnosis for inborn errors of metabolism?
Usually non specific queues such as:
- Poor feeding vomitting
- Failure to thrive
What is the incidence for inborn errors of metabolism within the UK?
Combined 1:2500
What is a fatty acid oxidation disorder?
Impaired provision of energy when fasting
What are the lab markers for a fatty acid oxidation disorder?
- Low glucose
- Low ketones
- High free fatty acids
What is the treatment for most inborn errors of metabolic disase?
Change in diet
Give an example of a carbohydrate disorder
GSD type 1
What are the lab markers for GSD type 1?
- Low glucose
- High lactate
- Accumulation of ketones
What are the clinical presentations of a carbohydrate disorder?
- Enlarged lvier and kidney
- Round face
- Truncal obesity
What are the key lab tests performed to diagnose a carbohydrate disorder such as GSD type 1?
Lipaemic blood
Large milky serum volume
How do you treat carbohydrate disorders?
- Avoidance of fasting
- Frequent meals
What causes the clinical symptoms of an amino acid disorder?
Toxicity of specific substrates at elevated levels
What are the general lab investigations that can be performed for an amino acid disorder?
- Amino acids present within urine or blood plasma
What is phenylketonuria?
Inability to metabolise phelylalanine due to lack of enzymes
