Aceruloplasminemia

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Aceruloplasminemia Classification and external resources
ICD-10	E 83.1
ICD-9	275.0
OMIM	604290
DiseasesDB	30055

Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene.

Aceruloplasminemia has an autosomal recessive pattern of inheritance.

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[edit] See also

v • d • e Inborn errors of metal metabolism (E83, 275)

Cu	Wilson's disease - Menkes disease

Fe	Primary iron overload disorder: Haemochromatosis (Juvenile) - Aceruloplasminemia - Atransferrinemia

Zn	Acrodermatitis enteropathica

PO₄³⁻	Hyperphosphatemia - Hypophosphatemia - Hypophosphatasia

Mg²⁺	Hypermagnesemia - Hypomagnesemia

Ca²⁺	Hypercalcaemia - Hypocalcaemia - Pseudohypoparathyroidism - Pseudopseudohypoparathyroidism

Biotin	Biotinidase deficiency - Holocarboxylase synthetase deficiency