MOD 15 - Inborn Metabolic Error Flashcards

1
Q

what are the 3 main mechanisms which can cause metabolic diseases

A

accumulation of a toxin, energy deficiency, deficient production of essential metabolite/structural component

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2
Q

why do we produce ammonia from our body?

A

ammonia comes mainly from breaking down ammonia acid

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3
Q

what test is carried out to diagnose inborn error of metabolism

A

basic urine metabolic screen

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