Inborn Errors of Metabolism Flashcards
1
Q
What causes inborn errors of metabolism?
A
Absence or defect of enzymes or transport proteins controlling a metabolic pathway.
2
Q
What is the inheritance pattern of most inborn errors of metabolism and which is the most common?
A
- Autosomal recessive
2. Phenylketonuria (PKU)
3
Q
How are inborn errors of metabolism diagnosed?
A
- Hypoglycaemia and metabolic acidosis (lactate) are the usual findings in acute presentations.
- Send blood and urine for metabolite screening
- Test blood for ammonia
4
Q
What is the management for inborn errors of metabolism?
A
Usually dietary manipulation
5
Q
What is this a presentation of?
6 months old, developmental delay, fair hair and blue eyes, learning difficulties, seizures.
A
Phenylketonuria (inborn error of metabolism)
6
Q
How is phenylketonuria diagnosed?
A
Heel prick test
7
Q
What is the management of phenylketonuria?
A
Low protein diet and restrict phenylalanine, replace with protein substitute which lacks it but enriched with tyrosine.
