Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypercatabolic hypoproteinemia

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.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
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
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
B2M
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

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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2.

None (1969) Disorders of immunoglobulin metabolism.

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3.

Waldmann TA et al. (1990) Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.

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4.

OMIM.ORG article

Omim 241600 [^]
Update: May 9, 2019