Abstract
One of the causes of hepatomegaly in children are rare (orphan) diseases associated with congential metabolic disorders. Starting from 2008, the last day of February is Rare Disease Day. As a rule, knowing that the child has a congenital metabolism disorder does not inspire pediatrician's optimism because of poor prognosis and ineffective therapy. However today, new drugs are emerging that can improve the quality of life of patients with orphan diseases. The main target of the pediatrician is timely diagnosis which allows to prescribe replacement enzyme therapy.
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