alpha1anti-trypsin deficiency clarification

[petitebrownie]

So pathoma states that A1AT deficiency is due to the misfolding of the mutated protein that could cause cirrhosis/liver damage. Gojian says there are 2 types of A1AT deficiency; you either don't make it at all or you have the accumulation of the misfolded protein as stated by pathoma. Pathoma doesn't mention anything about a complete deficiency but does this exist? I didn't see this mentioned anywhere else so wanted some clarification on this, thanks!

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[AlteredScale]

So pathoma states that A1AT deficiency is due to the misfolding of the mutated protein that could cause cirrhosis/liver damage. Gojian says there are 2 types of A1AT deficiency; you either don't make it at all or you have the accumulation of the misfolded protein as stated by pathoma. Pathoma doesn't mention anything about a complete deficiency but does this exist? I didn't see this mentioned anywhere else so wanted some clarification on this, thanks!

Yes this is correct. If you have Big Robbins as a source you will see that there are a few different phenotypes for this disease. The most common ones discussed are the PISS and PIZZ variations which described the misfolded portion response. There is additionally a A1AT null mutation which means there is no protein created. (https://www.ncbi.nlm.nih.gov/pubmed/18353624)