How to arise and identify inborn errors of metabolism


Metabolism takes place in several organs of the body, so disease manifests in a variety of forms. You can view the symptoms of each disease from the association homepage. Here, we explain the appearance features of the symptoms of inborn errors of metabolism.

As mentioned above, although it is called an enzyme abnormality (or deficiency), the presentation and severity of the disease vary. Symptoms of more severe disease appear earlier. The fetus has obvious symptoms before birth and is the most serious type of disease. In addition, there are severe symptoms after birth (starting in newborns). Severity depends on when symptoms appear. For example, neonatal type refers to a severe type of disease, infantile type refers to milder but more severe symptoms than neonatal type, and adult type refers to milder cases.

In patients with severe congenital metabolic disease examples, treatment is difficult and life is short; in relatively mild cases, asymptomatic after birth, but encephalopathy soon develops. They are characteristic of inborn errors of metabolism, so the aim of treatment is to prevent this encephalopathy. However, once brain disease occurs, in almost all cases, patients do not recover even with adequate treatment, so they must be diagnosed immediately after birth and treatment initiated as soon as possible. Many countries around the world, including Japan, are conducting large-scale newborn screening to detect inborn errors of metabolism earlier.

Examination and diagnosis should be performed in a specialized medical facility.

The diagnosis of congenital metabolic disorders requires various special medical equipment, but most of them are not covered by medical insurance, and are currently carried out in university research institutions or special inspection institutions. You can search which organization to check on the Japan Society for Genetic Metabolic Diseases homepage. In general, it is difficult for doctors in general hospitals to diagnose this rare disease, so patients must be examined and diagnosed in university hospitals or other specialized hospitals specializing in the treatment of inborn errors of metabolism.

Briefly explain the examination diagnosis, infer metabolic disorders from symptoms and results of general clinical examinations, and then thoroughly analyze abnormal metabolites in blood or urine, squeezing into specific diseases. Especially since urine contains a lot of disease-related metabolites, it is tested using special testing equipment such as mass analyzers. It extensively studies metabolites in the blood in the explained mass screening of newborns.

When a specific disease (abnormal disease) is inferred from these environmental examination results, the enzyme function (oxygen activation) associated with the abnormal disease is measured. If you find problems with enzymes, check the layout genes for those enzymes. These are all blood tests.

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