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Hyperzincemia and hypercalprotectinemia

Hyperzincemia and hypercalprotectinemia is an autosomal dominant autoinflammatory disease caused by mutations of the PSTPIP1. Like PAPA syndrome pyogenic arthritis, pyoderma gangrenosum, and acne are found in addition to elevated zinc levels in plasma.

Systematic

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
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary disorders protein metabolism
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
PSTPIP1
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

Smith JC et. al. (1976) Elevated plasmz zinc: a heritable anomaly.

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2.

Hambidge KM et. al. (1985) Hyperzincemia in a patient with pyoderma gangrenosum.

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3.

Failla ML et. al. (1982) Characterization of zinc-binding proteins of plasma in familial hyperzincemia.

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4.

Sampson B et. al. (1997) A case of hyperzincemia with functional zinc depletion: a new disorder?

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5.

Saito Y et. al. (2002) Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations?

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6.

Sampson B et. al. (2002) Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism.

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7.

Stewart AJ et. al. (2003) Interdomain zinc site on human albumin.

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Update: Aug. 14, 2020
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