Doctors of two hospitals in the Krasnodar Territory successfully cured the baby with the rare disease of “maple syrup” – a hereditary violation of the exchange of organic acids.

As told in the press service of the regional Ministry of Health, the girl was born in late December 2017 in the perinatal center of the regional hospital No. 2. The weight of the child was only 1.3 kilograms.

Two signs showed signs of an acute form of the disease – the development of central nervous system depression, hypotension, respiratory disorders, lack of weight gain.

The department explained that many symptoms of the disease “maple syrup” are similar to the sepsis of a small child. Therefore, there are difficulties in establishing the correct diagnosis. Without timely medical assistance, the patient may experience coma and death.

Doctors of Clinical Hospital No. 2 and Children’s Clinical Hospital fought for the life of the child for 50 days. Thanks to modern methods of diagnosis and treatment, the girl went on the mend. Now the child is three months old, he develops according to his age.

For 30 years, this is the second child born with such a diagnosis in the Kuban. The disease of “maple syrup” or leucinosis occurs at a frequency of once per 120-300 thousand newborns. It is named because of the maple syrup resembling the smell of urine, in which amino acids with a branched chain are found.

In the world, rare (orphan) diseases include more than a thousand unexplained diseases, including genetic and oncological diseases, as well as diseases of the blood and body tissues. In European countries, diseases that occur in one of two thousand people and less frequently in the United States are rare, if less than two thousand people are affected. In Russia, the criterion of rarity is the prevalence of the disease not more than 10 cases per 100 thousand population.

The Need Assistance Foundation conducted a study “Awareness of the Russian population about rare diseases” and learned how Russians treat orphan diseases and what they know about.

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