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.
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Wani MA et al. (2006) Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. |
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None (1969) Disorders of immunoglobulin metabolism. |
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Waldmann TA et al. (1990) Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin. |
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OMIM.ORG article Omim 241600 |