hepatolenticular degeneration/phosphatase

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Studies on the pathogenesis of hepatolenticular degeneration. I. Acid phosphatase activity in copper-loaded rat livers.

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Acute nonimmune hemolytic anemia without fulminant hepatitis in Wilson disease.

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Owing to the insidious course and variable presentation, Wilson disease is often diagnosed months to years after the initial symptoms. Although fulminant hepatitis with nonimmune hemolytic anemia is frequently reported, chronic mild hepatitis can occur with bouts of transient hemolytic anemia. We

Skeletal Muscle Involvement in Wilson Disease: Clinical and Magnetic Resonance Imaging (MRI) Observations in 2 Families

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Objective: Skeletal muscle involvement in Wilson disease is rare. Calf muscle pain might be attributed as growing pain in children. We report calf muscle involvement in Wilson disease and describe the magnetic resonance imaging (MRI)

Wilson disease developing osteoarthritic pain in severe acute liver failure: A case report.

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Wilson disease (WD) is a rare copper metabolism disorder with symptoms including hepatic disorders, neuropsychiatric abnormalities, Kayser-Fleischer rings, and hemolysis in association with acute liver failure (ALF). Osteoarthritis is a rare manifestation of WD. We experienced a case

Diagnostic criteria for acute liver failure due to Wilson disease.

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OBJECTIVE To describe the diagnostic criteria for acute liver failure due to Wilson disease (WD), which is an uncommon cause of acute liver failure (ALF). METHODS We compared findings of patients presenting with ALF due to WD to those with ALF of other etiologies. RESULTS Previously described

Factors that predict mortality in children with Wilson disease associated acute liver failure and comparison of Wilson disease specific prognostic indices.

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OBJECTIVE Wilson disease (WD) associated acute liver failure (ALF) affects children more than adults. The predictors of mortality and outcome in patients without encephalopathy are not clear. We investigated the ability of prognostic factors and various models including model for end-stage liver

Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests.

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Acute liver failure (ALF) due to Wilson disease (WD) is invariably fatal without emergency liver transplantation. Therefore, rapid diagnosis of WD should aid prompt transplant listing. To identify the best method for diagnosis of ALF due to WD (ALF-WD), data and serum were collected from 140 ALF

Wilson disease: a diagnostic challenge in a patient with alcoholic liver disease.

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A 32-year-old man with alcoholic cirrhosis presented with worsening abdominal distension and jaundice. He was diagnosed with cirrhosis 2 years prior after a hospitalisation for acute liver failure, during which viral, autoimmune and metabolic workup was unrevealing. Heavy alcohol consumption was his

[Acute liver failure as the initial manifestation of Wilson disease].

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BACKGROUND Establishing an early diagnosis is crucial to successfully treat mostly young patients with sudden onset acute hepatic failure as the initial symptom of Wilson's disease. Recognition of the entity of Wilsonian fulminant hepatitis is important, because liver transplantation improves

Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins.

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ATP7A and ATP7B are two human P(1B)-type ATPases that have a crucial role in maintaining copper(I) homeostasis. Among the various domains of these enzymes, one, called the Actuator or A-domain, has a regulatory function and is required for the phosphatase step of the catalytic cycle

Acute Liver Failure due to Wilson Disease: Eight Years of the National Liver Transplant Program in Uruguay.

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Wilson's disease (WD) is an uncommon cause of acute liver failure (ALF). Our aim was to describe clinical features, diagnostic findings, treatments, and outcomes of patients with ALF due to WD.Retrospective medical record reviews of all patients with ALF

[Elevated liver enzymes].

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Elevated liver enzymes are a frequent finding in both symptomatic and asymptomatic patients necessitating further evaluation to clarify the underlying disease. Three different patterns of increased liver enzymes can be defined to allow for a more precise and rational further diagnostic approach. A

Serum liver enzymes in Turner syndrome.

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Increased serum concentrations of liver enzymes are sometimes observed, in the absence of clinical symptoms of liver disease, in patients with Turner syndrome. The purpose of this study was to evaluate, in our Turner patients, serum liver enzyme levels and to find a cause for their increase. In 70

A Patient with Nafcillin-Associated Drug-Induced Liver Failure.

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Nafcillin-induced acute liver injury is a rare and potentially fatal complication that has been known since the 1960s but inadequately studied. At this time, the only proven treatment is early discontinuation of the drug. Because of the high prevalence of nafcillin class antibiotic use in the United

ATP-dependent copper transporter, in the Golgi apparatus of rat hepatocytes, transports Cu(II) not Cu(I).

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The Wilson disease adenosinetriphosphatase (ATPase; ATP7B) is believed to bind copper as Cu(I). We provide evidence to suggest that the ATPase actually transports Cu as Cu(II). When the copper is presented to rat liver microsomes as Cu(I), virtually all uptake is ATP independent. If the copper is

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