Step I Hyperammonemia in MCAD def.

[goal270]

Hi, I read on Wikipedia that there is significant increase in Ammonia levels in blood in MCAD deficiency. Can anyone explain why?

 

[Anti-PD1]

My guess would be increased utilization of amino acids in the TCA.

 

[Event_Horizon]

My guess would be increased utilization of amino acids in the TCA.

This is right. Because beta-oxidation is messed up in MCAD deficiency, once your glucose/glyocogen stores get used up you need to get those carbon chains to make more glucose and/or ketone bodies from somewhere (amino acids). That increased metabolism of amino acids means those nitrogen waste groups build up because urea cycle can only go so fast.