Wilson Disease

Mulligan, Caitlin; Bronstein, Jeff M.

doi:10.1016/j.ncl.2020.01.005

Cited by 99 publications

(69 citation statements)

References 72 publications

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“…Wilson disease is a disorder of copper metabolism, caused by biallelic mutations in the ATP7B gene, and characterized by low serum ceruloplasmin levels and elevated daily urinary copper excretion (Ferenci, 2017). Current treatment includes avoiding copper-rich foods, reducing copper absorption with zinc, chelation therapy to remove copper from tissues, and symptomatic treatment (Mulligan and Bronstein, 2020). Early recognition is prerequisite for treatment success (Mulligan and Bronstein, 2020).…”

Section: Wilson Diseasementioning

confidence: 99%

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

et al. 2021

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Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes—MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), Niemann-Pick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. In this review, we briefly describe etiology, clinical presentation, and therapeutic principles, if they exist, for these conditions. Additionally, we suggest the primary and elective laboratory work-up for their successful early diagnosis.

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Section: Wilson Diseasementioning

confidence: 99%

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

et al. 2021

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“…Clinical features are variable. Typically, the disease starts in adolescence or early adulthood as a hepatopathy, followed by neurological complications (Mulligan and Bronstein 2020). Diagnostic delay is longer in patients presenting with neuropsychiatric symptoms (Merle et al 2007).…”

Section: Wilson's Diseasementioning

confidence: 99%

Complex dystonias: an update on diagnosis and care

et al. 2020

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Complex dystonias are defined as dystonias that are accompanied by neurologic or systemic manifestations beyond movement disorders. Many syndromes or diseases can present with complex dystonia, either as the cardinal sign or as part of a multi-systemic manifestation. Complex dystonia often gradually develops in the disease course, but can also be present from the outset. If available, the diagnostic workup, disease-specific treatment, and management of patients with complex dystonias require a multi-disciplinary approach. This article summarizes current knowledge on complex dystonias with a particular view of recent developments with respect to advances in diagnosis and management, including causative treatments.

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“…More than 500 mutations have been identified in the ATP7B gene that cause intracellular copper transporter ATP-ase 7B (ATP7B) [OMIM * 606882] dysfunction leading to the accumulation of copper mainly in the liver and brain, but also in other organs such as the kidney and brain. In most cases the first symptoms of WD appear in childhood, but sometimes they can appear later even after the age of 60 (Mulligan and Bronstein 2020;Ala et al 2007;Roberts and Schilsky 2008;Terada et al 1998;Merle et al 2007).…”

Section: Introductionmentioning

confidence: 99%

Iron metabolism is disturbed and anti-copper treatment improves but does not normalize iron metabolism in Wilson’s disease

et al. 2021

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Wilson’s disease (WD) is a rare hereditary disorder of copper metabolism. Some data suggest that iron metabolism is disturbed in WD and this may affect the course of the disease. The current study aimed to determine whether anti-copper treatment could affect iron metabolism in WD. One hundred thirty-eight WD patients and 102 controls were examined. Serum ceruloplasmin and copper were measured by colorimetric enzyme assay or atomic adsorption spectroscopy, respectively. Routine and non-routine parameters of iron metabolism were measured by standard laboratory methods or enzyme immunoassay, respectively. WD patients, both newly diagnosed and treated, had less serum copper and ceruloplasmin than controls (90.0, 63.0, 22.0 mg/dL, respectively, p < 0.001); in the treated patients blood copper and ceruloplasmin were lower than in untreated patients (p < 0.001). Untreated patients (n = 39) had a higher median blood iron (126.0 vs 103.5 ug/dL, p < 0.05), ferritin (158.9 vs 47.5 ng/mL, p < 0.001), hepcidin (32, 6 vs 12.1 ng/mL, p < 0.001) and sTfR (0.8 vs. 0.7 ug/mL, p < 0.001) and lower blood transferrin (2.4 vs. 2.7 g/L, p < 0.001), TIBC (303.0 vs 338.0 ug/dL, p < 0.001), hemoglobin (13.1 vs 13.9 g/dL, p < 0.01) and RBC (4.3 vs. 4.6, p < 0.002) than controls. Treated patients (n = 99) had a significantly lower median iron (88.0 vs. 126.0 ug/dL, p < 0.001), ferritin (77.0 vs. 158.9 ng/mL, p < 0.005) and hepcidin (16.7 vs. 32.6 ng/mL, p < 001) and higher transferrin (2.8 vs. 2.4 g/L, p < 0.005), TIBC (336.0 vs 303.0 ug/dL, p < 0.001), RBC (4.8 vs. 4.3 M/L, p < 0.001) and hemoglobin (14.4 vs. 13.1 g/dL, p < 0.001) than untreated; the median iron (p < 0.005) was lower, and ferritin (p < 0.005), RBC (p < 0.005) and hepcidin (p < 0.002) were higher in them than in the control group. Changes in copper metabolism are accompanied by changes in iron metabolism in WD. Anti-copper treatment improves but does not normalize iron metabolism.

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Wilson Disease

Cited by 99 publications

References 72 publications

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Complex dystonias: an update on diagnosis and care

Iron metabolism is disturbed and anti-copper treatment improves but does not normalize iron metabolism in Wilson’s disease

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