"Aceruloplasminemia"

Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data. Aceruloplasminemia (ACP) is a rare recessive disease caused by loss of ceruloplasmin activity due to pathogenic variants in the ceruloplasmin (CP) gene. ACP causes iron accumulation in various organs, leading to neurodegeneration, anaemia, and diabetes

ABSENCE OF MACULAR DEGENERATION IN A PATIENT WITH ACERULOPLASMINEMIA. To describe the clinical, histological, electrophysiologic, and multimodal imaging findings in a 76-year-old patient with aceruloplasminemia with low genetic risk of age-related macular degeneration (AMD). Clinical examination as well as multimodal imaging including fundus photography, optical coherence tomography , fluorescence lifetime imaging ophthalmoscopy imaging, and full-field and multifocal electroretinography were performed on one patient with aceruloplasminemia. The ceruloplasmin gene was sequenced to confirm a known mutation. Single nucleotide polymorphism genotyping of known AMD risk alleles was performed to characterize the AMD risk profile of the patient. Prussian blue staining in postmortem retinal

Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy Aceruloplasminemia is an autosomal recessive inherited disorder caused by ceruloplasmin gene mutations. The loss of ferroxidase activity of ceruloplasmin due to gene mutations causes a disturbance in cellular iron transport. We herein describe a patient with aceruloplasminemia, who presented with diabetes mellitus that was treated by insulin injections, liver hemosiderosis treated by phlebotomy therapy, and neurological impairment. A genetic analysis of the ceruloplasmin gene revealed novel compound heterozygous mutations of c.1286_1290insTATAC in exon 7 and c.2185delC in exon 12. This abnormal compound heterozygote had typical clinical features similar to those

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene A 72-year-old Japanese woman suffered from mild pancytopenia 3 years before her initial hospitalization. On admission, the levels of trace elements, particularly copper, and ceruloplasmin were significantly decreased in her blood serum. Abdominal lymphadenopathy , it is worthwhile to consider a differential diagnosis of aceruloplasminemia.

Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Current therapies mainly based on iron chelation, partially control systemic iron deposition but are ineffective on neurodegeneration. We investigated the potential of ceruloplasmin replacement therapy in reducing the neurological pathology in the ceruloplasmin-knockout (CpKO) mouse model of aceruloplasminemia. CpKO mice

The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia We herein report the case of a hemodialysis patient whose response to an erythropoiesis-stimulating agent (ESA) improved following the resection of thyroid cancer. Her hemoglobin level remained below 7 g/dL, despite the use of ESA. During the search for the causes of her hyporesponsiveness to ESA, papillary thyroid cancer and aceruloplasminemia were found. The existence of other potential causes, such as iron deficiency, infectious disease, severe hyperparathyroidism and malnutrition were ruled out. Following the resection of the thyroid cancer tumor, her hemoglobin level increased to 10.2 g/dL over a period of 4

Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report). Aceruloplasminemia is an autosomal recessive disorder of iron metabolism caused by mutations in the ceruloplasmin gene. Its prevalence is 1 in 2,000,000 people in Japan. This is a disorder of neurodegeneration with iron accumulation in the brain revealed by MRI. The iron overload

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. To detect features that might lead to the early diagnosis and treatment of aceruloplasminemia, as initiation of treatment before the onset of neurological symptoms is likely to prevent neurological deterioration. The PubMed and OMIM databases were searched for published cases of aceruloplasminemia . Diagnostic criteria for aceruloplasminemia were undetectable or very low serum ceruloplasmin, hyperferritinemia and low transferrin saturation. Clinical, biochemical and radiological data on the presentation and follow-up of the cases were extracted and completed through e-mail contact with all authors. We present an overview of 55 aceruloplasminemia cases, including three previously unreported cases

Never forget aceruloplasminemia in case of highly suggestive Wilson's disease score.

Teaching NeuroImages: Neurodegeneration with brain iron accumulation in aceruloplasminemia. A 55-year-old African Canadian man with insulin-dependent diabetes mellitus and alcohol abuse presented with diabetic ketoacidosis. Progressive cognitive decline over the previous 5 years resulted in long-term care placement. Aside from pigmentary retinopathy, general examination was unremarkable. MRI demonstrated iron accumulation in the brain (figure 1) and liver (figure 2A). Ceruloplasmin, a ferroxidase enzyme important in iron homeostasis, was undetectable and associated with low serum iron, low serum copper, and 10-fold increase in serum ferritin. Liver biopsy confirmed increased hepatocyte iron storage (figure 2B). Aceruloplasminemia was diagnosed.(1,2) Iron chelation was not administered given

Brain and liver iron accumulation in aceruloplasminemia.

Menkes disease Aceruloplasminemia MEDNIK syndrome (AP1S1 disorder) AP1B1 disorder Congenital glycosylation disorder PGM1‐CDG

(dystonia, myoclonus, discrete chorea [101])Leigh's disease [63]SETX mutation (with motor neuron disease [94])Laurence-Moon-Biedl-Bardet syndrome [65]Friedreich ataxia [41]NBIA “neurodegeneration with brain iron accumulation” (umbrella term for e.g. Pantothenate kinase-associated neurodegeneration (PKAN 2), neuroferritinopathies (FTL), Aceruloplasminemia (CP), phospholipase-associated neurodegeneration ; but ~ 8% without positive family history [111]C9orf72 mutationsSpinocerebellar ataxia type 3, 2, 1, 7, 8, 12, 17, 48DRPLA (especially Japan)HDL2 (especially of African origin)Neuroferritinopathy (NBIA)NKX2-1 (benign course of the disease)Autosomal-recessive Wilson’s diseaseNeuroacanthocytosis Syndroms, VPS13A- and XK-disease /McLeod (CK, blood smear, chorein western blot)PLAN, PKAN2, aceruloplasminemia

– 328 . NICE . ( 2015 ) Chronic kidney disease: managing anaemia. NICE Guideline 8 [NG8] . National Institute for Health and Care Excellence, London . Nittis, T. & Gitlin, J.D. ( 2002 ) The copper‐iron connection: hereditary aceruloplasminemia . Seminars in Hematology , 39 , 282 – 289 . Ogilvie, C. , Fitzsimons, K. & Fitzsimons, E.J. ( 2010 ) Serum ferritin values in primary care: are high values

aceruloplasminemia (40– 44). Twomain studies aimed at evaluating the diagnostic accuracy of serumceruloplasmin for the diagnosis of WD (40,44). The best WDdiagnostic threshold of serum ceruloplasmin was<14 mg/dL (sen-sitivity 93% and specificity 100%) in a series of 57 WD adults andchildren with liver dysfunction and/or neurological deficits (40), and<20 mg/dL (sensitivity 95% and specificity 84.5

such as regulating the homeostasis of copper and iron ions, ferroxidase activity, oxidizing organic amines, and preventing the formation of free radicals. In addition, as an acute-phase protein, CP is induced during inflammation and infection. The fact that patients with genetic disorder aceruloplasminemia do not suffer from tissue copper deficiency, but rather from disruptions in iron metabolism shows essential

acidemias specifically propionic acidemia, methylmalonic acidemia, isovaleric acidemia, hereditary hemochromatosis, aceruloplasminemia, holocarboxylase synthetase deficiency, β-ketothiolase deficiency and finally, cystinosis, Rogers syndrome (thiamine-responsive megaloblastic anaemia) and congenital disorders of glycosylation type Ia. Clinical approach will help in ready diagnosis and treatment for IEM

. Aceruloplasminemia and atransferrinemia are further inherited disorders of iron overload caused by deficiency in ceruloplasmin or transferrin, the plasma ferroxidase and iron carrier, respectively.

of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG

CD1 Mouse Retina Is Shielded From Iron Overload Caused by a High Iron Diet. High RPE iron levels have been associated with age-related macular degeneration. Mutation of the ferroxidase ceruloplasmin leads to RPE iron accumulation and degeneration in patients with aceruloplasminemia; mice lacking ceruloplasmin and its homolog hephaestin have a similar RPE degeneration. To determine whether a high