Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Aceruloplasminemia/Hypoceruloplasminemia

Aceruloplasminemia and Hypoceruloplasminemia are hereditary disorders including copper and iron metabolism. The disorders are caused by mutations of the CP (ceruloplasmin) gene, which result in copper storage in different tissues characterized clinically by systemic hemosiderosis, diabetes mellitus, pigment degeneration of the retina, and neurologic abnormalities. Depending on the nature of the mutation and the allele dosage dominant and recessive as well as hypo- and acaeruloplasminemia may be discriminated. Heterozygous mutations usually result in hypoaceruloplasminemia while aceruloplasminemia is a recessive disorder.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
CP
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
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

Morita H et al. (1992) [A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain].

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2.

Hahn P et al. (2004) Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration.

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3.

Krawczak M et al. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

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4.

Miyajima H et al. (1987) Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration.

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5.

Lee GR et al. (1968) Iron metabolism in copper-deficient swine.

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6.

Osaki S et al. (1966) The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.

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7.

Yoshida K et al. (1995) A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.

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8.

Harris ZL et al. (1995) Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

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9.

Okamoto N et al. (1996) Hereditary ceruloplasmin deficiency with hemosiderosis.

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10.

Takahashi Y et al. (1996) Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

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11.

Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

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12.

Edwards CQ et al. (1979) Hereditary hypoceruloplasminemia.

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13.

None (1980) Pharmacology of blepharospasm-oromandibular dystonia syndrome.

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14.

Tanner CM et al. (1982) Meige disease: acute and chronic cholinergic effects.

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15.

Morita H et al. (1995) Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.

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16.

Miyajima H et al. (1997) Use of desferrioxamine in the treatment of aceruloplasminemia.

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17.

Orphanet article

Orphanet ID 48818 [^]
18.

OMIM.ORG article

Omim 604290 [^]
Update: April 29, 2019