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Disorder of Copper Metabolism



  • Results are presented to show that a combination of 64Cu-uptake and chase results offers a better diagnostic potential than 64Cu-uptake per se. Chorionic villus copper values from 53 first-trimester prenatal diagnoses are presented.[ncbi.nlm.nih.gov]
  • A nursing care plan is presented.[ncbi.nlm.nih.gov]
  • The authors present an adolescent with an unusual presentation of copper deficiency-dysarthria, ataxia, and vertical gaze paresis, without significant cognitive degeneration or pathological magnetic resonance imaging (MRI).[mayoclinic.pure.elsevier.com]
  • Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only.[ep.bmj.com]
  • We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and[pediatrics.aappublications.org]
Palmar Erythema
  • erythema Digital clubbing Hematemesis Jaundice Neuropsychiatric features Most patients who present with neuropsychiatric manifestations have cirrhosis.[emedicine.medscape.com]
Flexion Contracture
  • contractures Psychiatric features (10-20% of patients) include the following: Emotional lability Impulsiveness Disinhibition Self-injurious behavior Psychiatric abnormalities associated with Wilson disease has been divided into the following four basic[emedicine.medscape.com]
Antimongoloid Slant
  • An extraoral examination revealed synophrus, antimongoloid slanting, slight ptosis, hirsutism, thick lips, everted lower lip, fissured lips and prominent philtrum ( Figure 1a ).[omicsonline.org]
Microscopic Hematuria
  • In 5 to 10% of patients, Wilson's disease may first manifest as Kayser-Fleischer rings detected during a refractive eye examination; as amenorrhea or repeated miscarriages ; or, because of renal copper deposits, as gross or microscopic hematuria or an[diagnose-me.com]


  • (See Etiology, Presentation, and Workup .) Although it is extremely rare in clinical practice, Wilson disease is important because it is often fatal if not recognized and treated when symptomatic.[emedicine.medscape.com]
Prothrombin Time Prolonged
  • time prolongation (seconds) 4 4-8 9-12 13-20 30 Prognosis after liver transplantation is relatively good.[emedicine.medscape.com]
Coombs Negative Hemolytic Anemia
  • Diagnosis and Tests Wilson's disease is almost certainly the diagnosis in any patient presenting with fulminant hepatitis, Coombs-negative hemolytic anemia, ceruloplasmin deficiency, and hypercupriuria.[diagnose-me.com]
Early Repolarization
  • […] imaging shows characteristic findings; MRI appears to be more sensitive than CT in detecting early lesions Abdominal imaging findings are neither sensitive nor specific Resting ECG abnormalities include left ventricular or biventricular hypertrophy, early[emedicine.medscape.com]
T Wave Inversion
  • […] appears to be more sensitive than CT in detecting early lesions Abdominal imaging findings are neither sensitive nor specific Resting ECG abnormalities include left ventricular or biventricular hypertrophy, early repolarization, ST segment depression, T-wave[emedicine.medscape.com]
Biventricular Hypertrophy
  • hypertrophy, early repolarization, ST segment depression, T-wave inversion, and various arrhythmias Electron microscopic detection of copper-containing hepatocytic lysosomes is helpful in the diagnosis of the early stages of Wilson disease, in addition[emedicine.medscape.com]


  • The etiology, pathogenesis, clinical manifestations, diagnosis, and treatment of the disease are discussed. A nursing care plan is presented.[ncbi.nlm.nih.gov]
  • Appropriate treatment of Menkes Disease requires that the disease be diagnosed early and treatment started before irreversible brain damage occurs.[clinicaltrials.gov]
  • The therapeutic use of copper-NTA, and the necessity for prenatal intervention for successful treatment of the mutant, are discussed in relation to Menkes' syndrome.[ncbi.nlm.nih.gov]
  • However, without any treatment, Wilson's disease is usually fatal - typically, before the age of 40. If symptoms have developed before treatment has started, some of the symptoms improve with treatment but some may remain permanently.[patient.info]
  • The key to long-term success of pharmacologic treatment for WD is the patient's adherence to treatment.[clevelandclinicmeded.com]


  • […] copper: reduced 14 free serum copper: increased 14 urinary copper: increased 14 Please see individual articles: Wilson disease: hepatobiliary manifestations Wilson disease: CNS manifestations Wilson disease: musculoskeletal manifestations Treatment and prognosis[radiopaedia.org]
  • Wilson disease: Treatment and prognosis. . Accessed June 22, 2017. Bandmann O, et al. Wilson's disease and other neurological copper disorders. The Lancet Neurology. 2015;14:103. Wilson disease. American Liver Foundation. . Accessed June 22, 2017.[mayoclinic.org]
  • Prognosis Regardless of the way Wilson's disease evolves, it is always fatal, generally before age 30 and usually after years of suffering, unless timely, lifelong, uninterrupted specific treatment is instituted.[diagnose-me.com]
  • […] differential diagnosis. [9] In general, the upper age limit for considering Wilson Disease is 40 years and the lower age limit is 5 years, although the disorder has been detected in children younger than 3 years and in adults older than 70 years. [10] Prognosis[emedicine.medscape.com]
  • Prognosis for patients with Wilson disease is usually good, unless disease is advanced before treatment begins. Untreated Wilson disease is fatal, usually by age 30.[msdmanuals.com]


  • The etiology, pathogenesis, clinical manifestations, diagnosis, and treatment of the disease are discussed. A nursing care plan is presented.[ncbi.nlm.nih.gov]
  • Liver disease of an unexplained etiology in a patient younger than 40 should raise it as a possibility. It may, however, present as an acute hepatitis. Usually, patients with Wilson’s disease who have neuropsychiatric symptoms also have cirrhosis.[docneuro.com]
  • Poleník P (1993) Zinc in etiology of periodontal disease. Med Hypotheses 40: 182-185.[omicsonline.org]
  • Based upon his research of schizophrenics (which includes an enormous database of testing results), copper toxicity is one primary etiology (1).[metabolichealing.com]


  • Key Points Wilson's disease is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B Epidemiologic clustering of mutations to the ATP7B gene based on ethnicity have been observed Diagnosis of the condition is[nature.com]
  • Epidemiology In the United States, the carrier frequency is 1 per 90 individuals. The prevalence of Wilson disease is 1 per 30,000 individuals.[emedicine.medscape.com]
Sex distribution
Age distribution


  • However, a definite pathophysiological connection between Niemann-Pick type C and copper metabolism disorders has never been established.[mayoclinic.pure.elsevier.com]
  • This review describes these proteins and examines the clinical consequences of new insights into the pathophysiology of genetic abnormalities affecting iron and copper metabolisms.[jstage.jst.go.jp]
  • Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology. metabolic[pediatrics.aappublications.org]
  • Both Wilson and Menkes diseases have specific pathophysiological manifestations, which are for Wilson disease mainly related to copper accumulation in the liver and brain and for Menkes disease to a systemic shortage of copper, resulting in an insufficient[link.springer.com]
  • Pathophysiological consequences of copper deficiency and toxicity characterize these two disorders.[ncbi.nlm.nih.gov]


  • Therefore, it does not clear excess copper from the body, but prevents any further build-up of copper. Zinc is much less likely than penicillamine or trientine to cause side-effects.[patient.info]
  • The disorder prevents the body from removing extra copper. Wilson disease is often fatal and may cause life threatening organ damage, if not recognized and treated when symptomatic.[vikramsclinic.com]
  • A low-copper diet (eg, avoiding beef liver, cashews, black-eyed peas, vegetable juice, shellfish, mushrooms, and cocoa) and use of penicillamine, trientine, and sometimes oral zinc can prevent copper from accumulating.[msdmanuals.com]
  • Ideally, patients should be diagnosed early enough for medical therapy to attenuate or abolish symptoms and prevent progression of the disease.[clevelandclinicmeded.com]
  • Treatment and Prevention Continual, lifelong treatment is required.[diagnose-me.com]

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