Wilson Disease

One patient developed symptoms indicating that she may have schizophrenia. As many symptoms mimic schizophrenia, the doctor examined the family notes and noticed that the patient had missed an ophthalmologist's appointment. The doctor makes it very clear that the examination confirms or refutes the diagnosis and can request eye examination. The Kayser-Fleischer ring is on the cornea of ​​her eyes. These rings are deposits of copper and sulfur particles which are greenish gold. They do not always exist, but if they exist, they are the classic identifier of Wilson disease.

Wilson's syndrome (not to be confused with Wilson's disease) is a concept of alternative medicine that is not considered a legal diagnosis of evidence-based medicine. Its advocate accounts for Wilson's syndrome as a mixture of general and nonspecific symptoms due to hypothermia and conversion of thyroxine (T4) to triiodothyronine (T3), but normal thyroid gland It is a functional test. According to the American Thyroid Association (ATA), Wilson's syndrome conflicts with knowledge of established thyroid function, has ambiguous diagnostic criteria and lacks evidence of scientific evidence. ATA is also afraid that the proposed treatment may be harmful

In humans, tetrathiomolybdate therapy is being developed against Wilson's disease, a hereditary disorder in which accumulation of copper in tissues causes damage to the liver and brain. Recently, tetrathiomolybdate has been studied for the treatment of cancer and inflammatory diseases. (Detail) Mutations in the molybdenum cofactor biosynthetic pathway result in the lack of all molybdenum-dependent enzyme combinations. The lack of type A molybdenum cofactor is due to mutation of MOCS1 gene caused by mutation of MOCS2 gene. The deficiency of both type A and type B results in a loss of sulfite oxidase activity as well as an isolated sulfite oxidase deficiency and is characterized by severe neurological abnormality in affected patients. (Details)

In other diseases, nuclear gene defects cause mitochondrial protein dysfunction. This is the case of Friedreich ataxia, hereditary spastic paraplegia and Wilson's disease. These diseases have been inherited by a dominant relationship and are applicable to most other genetic diseases. Nuclear mutations of oxidative phosphorylase may cause various diseases such as coenzyme Q 10 deficiency and bus syndrome. Environmental effects interact with genetic susceptibility and may cause mitochondrial disease. For example, there may be relevance between pesticide exposure and the delayedness of Parkinson's disease. Other causes of mitochondrial dysfunction include schizophrenia, bipolar disorder, dementia, Alzheimer's disease, Parkinson's disease, epilepsy, stroke, cardiovascular disease, chronic fatigue syndrome, retinitis pigmentosa and diabetes.