Hypercatabolic hypoproteinemia is an autosomal recessive disorder caused by mutations of the B2M gene that encodes for beta-2 microglobulin. Laboratory findings unclude low albumin and immunoglobulin levels caused by an increased turnover. The disease is associated with diabetes and skeletal deformations.
Wani MA et al. (2006) Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.[^]
None (1969) Disorders of immunoglobulin metabolism.[^]
Waldmann TA et al. (1990) Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.[^]
OMIM.ORG articleOmim 241600 [^]