Aceruloplasminemia


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Aceruloplasminemia

A neurodegenerative disorder characterised by accumulation of iron in the brain and a clinical triad of retinal degeneration, diabetes mellitus, and neurologic signs/symptoms.
Clinical findings Movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and cerebellar ataxia (gait ataxia, dysarthria), progressive extrapyramidal signs, and dementia
Lab Absent serum ceruloplasmin due to a mutation in the ceruloplasmin gene and one or more of the following: low serum copper or iron, high serum ferritin, and increased iron in the glia, neurones, basal ganglia and dentate nucleus, liver cells, and pancreatic islets.
Imaging MRI findings of abnormal low intensities reflecting iron accumulation in the brain (striatum, thalamus, dentate nucleus) and liver on both T1- and T2-weighted images.
Management Chelation with desferrioxamine, fresh-frozen plasma (FFP) to reduce iron in the liver may improve neurologic signs/symptoms; antioxidants (vitamin E), zinc and deferasirox (iron chelator) may prevent hepatic and pancreatic damage.
References in periodicals archive ?
1,2) Other subtypes of NBIA include neuroferritinopathy and aceruloplasminemia caused by mutations in the ferritin light chain (FTL) and mutations in the ceruloplasmin (CP) gene, respectively.
All patients with PKAN had the eye of the tiger sign, but this was only seen in two patients with neuroferritinopathy and none of the patients with aceruloplasminemia and NBIA type 2.
Rare diseases such as Menkes disease (an X-linked disorder of copper transport leading to decreased intestinal copper absorption) and aceruloplasminemia (a rare disorder leading to the absence of ceruloplasmin and problems in iron metabolism).
Some of the NBIA disorders include aceruloplasminemia, fatty acid hydroxylase-associated neurodegeneration, infantile neuroaxonal dystrophy, Kufor-Rakeb syndrome, neuroaxonal dystrophy, neuroferritinopathy.
La deficiencia de la proteina en humanos, se denomina aceruloplasminemia y conduce a una degeneracion tardia de la retina y de los ganglios basales, por la acumulacion patologica de hierro en estos tejidos al igual que en el higado, bazo, pancreas y celulas del cerebro (9,28,85,87).
Decreased concentrations of ceruloplasmin may indicate aceruloplasminemia, Menkes disease, or Wilson disease.
Several hereditary disorders, including aceruloplasminemia, can disrupt this homeostasis.
Studies from an IRP deficient murine model suggests that impairment of ferritin transcriptional regulation result in iron accumulation in oligodendrocytes leading to neuronal degeneration and secondary iron deficiency similar to aceruloplasminemia (69).
OS resulting from perturbations in the levels or distribution of brain Fe and Cu has been implicated in an impressive array of genetic and acquired neurological disorders, including such entities as Friedreich ataxia, pantothenate kinase-2-associated neurodegeneration (formerly Hallervorden-Spatz disease), neuroferritinopathy, Alzheimer disease, Parkinson disease, multiple sclerosis, aceruloplasminemia, superficial siderosis, the restless legs syndrome, and Wilson disease.
Ceruloplasmin deficiency also has been observed in other pathological conditions, including Menkes disease, protein calorie malnutrition, nephrotic syndrome, protein-losing enteropathy, acquired copper deficiency, and hereditary aceruloplasminemia (31).
Differential diagnosis should also include familial hyperferritinemia congenital cataract syndrome (HHCS), which is a rare disease without iron overload but with high ferritin concentrations (134,135); aceruloplasminemia, which manifests predominately with neurologic symptoms (136,137); and the increasingly prevalent metabolic syndrome present in obese, hypertensive, insulin-resistant, or dyslipidemic individuals (Table 1) (39,43).
This chapter also introduces the major genetic disorders of copper metabolism: Menkes and Wilson diseases and aceruloplasminemia.