hypercatabolic hypoproteinemia

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hypercatabolic hypoproteinemia2016-11-26T04:23:21+00:00

hypercatabolic hypoproteinemia


Definition An über rare disorder (OMIM:241600) characterised by excessive endogenous catabolism of albumin and immunoglobulins in which affected individuals have minimal serum levels of immunoglobulin and albumin due to rapid degradation. 

Molecular pathology Defects of B2M, which encodes a serum protein that associates with the MHC–major histocompatibility complex, cause hypercatabolic hypoproteinemia. 

References http://www.uniprot.org/uniprot/P61769


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