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]

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]

• Pediatric Disease

  March 14, 2017 07:30 ET Source: Cyprium, NICHD establish CRADA to advance clinical development of Phase 3 candidate CUTX-101 (Copper Histidinate injection) in Menkes disease, a rare and fatal pediatric disease Cyprium licenses preclinical AAV-ATP7A gene [globenewswire.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]

When the treatment is initiated in newborn babies prior to two months of age, the neurological degeneration may be prevented, but delayed treatment is considerably less effective. [pubs.rsc.org]

The etiology, pathogenesis, clinical manifestations, diagnosis, and treatment of the disease are discussed. A nursing care plan is presented. [ncbi.nlm.nih.gov]

(Cyprium), to develop novel therapies for the treatment of Menkes disease and related copper metabolism disorders. [globenewswire.com]

Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int. 2011; 31(1):83-91. PMID: 20958917 Roberts, EA, et al. Diagnosis and treatment of Wilson disease: an update. [invitae.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]

Because early diagnosis and treatment seem to result in a better prognosis, the disorder is ideally detected before age 2 wk. However, diagnostic accuracy of these tests is limited. Thus, other tests are being developed. [merckmanuals.com]

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]

The etiology, pathogenesis, clinical manifestations, diagnosis, and treatment of the disease are discussed. A nursing care plan is presented. [ncbi.nlm.nih.gov]

Manifestation code identifies conditions for which it is important to record both the etiology and the symptom of the disease. [books.google.com]

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]

You are (*) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message [orpha.net]

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]

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]

An understanding of the relation between WD and hepatocellular carcinoma will provide clues to help prevent hepatocellular carcinoma in patients with WD. [pubs.rsc.org]

"Inherited mutations that prevent copper delivery to a key mitochondrial enzyme perturb energy production and result in fatal mitochondrial disease. Currently, no therapy exists for these disorders." [sciencedaily.com]

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]

Red blood cells of patients with KHD incorporated orally administered Cu preferentially, which was sufficient to prevent anemia. [jamanetwork.com]