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.
|Hereditary metabolic diseases|
|Coenzyme Q10 deficiency|
|Congenital disorder of glycosylation|
|Disorders of cobalamin metabolism|
|Disorders of iron metabolism|
|Disorders of urate metabolism|
|Disturbances in phosphate metabolism|
|Disturbances of glucose metabolism|
|Hereditary disorders protein metabolism|
|Hereditary lipid disorders|
|Hyperzincemia and hypercalprotectinemia|
|Lysosomal storage disease|
|Methionine adenosyltransferase deficiency|
|Urea cycle disorders|
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