18.04.08 Inborn errors of metabolism

Question 1

Give a brief overview of IEM,

Answer 1

1) Geneticly and phenotypicly hetergenous group of disorders caused by alterations in a metabolic pathways 2) Clinical features arise due to accumulation of a toxic product, deficiency of a product. or activation of an alternate metabolic pathway 3) Individually rare, collectively common (overall 1:4000) 4) Usual presentation in neonatal period or infancy 5) Can be non-specific clinical presentation 6) Nearly every IEM has several forms that vary in onset and severity and may vary in mode of inheritance 7) Many IEMs are amenable to dietary intervention 8) Untreated IEMs can result in sever disability or death

Question 2

Draw a diagram briefly summarising the pathogenic mechanisms underlying IEMs

Answer 2

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