Niemann-Pick disease: symptoms, diagnostics, treatment

Among all inborn errors of metabolism lysosomal storage diseases occupy an important place, because they have a diverse clinical symptoms, manifest at different ages and are disguised as diseases, which makes the diagnosis these quite difficult long-term. Niemann-Pick disease, rare inherited neurodegenerative disease caused by disruption intracellular lipid metabolism, is one such disease. The manifestations this nonspecific, including neurological, visceral, or psychiatric can appear both in childhood adulthood, complicates diagnosis. Although belongs to orphan doctors many specialties may encounter patient - general practitioners, pediatrician, neonatologist, neurologist, gastroenterologist, hepatologist, hematologist psychiatrist. Due specifics clinic, insufficient awareness referral medical geneticist late patients remain unrecognized for years. purpose provide up-to-date data on type C manifestations, diagnostic difficulties, information treatment options increase among physicians various specialties. article discusses features basic about possibilities laboratory diagnostics, tools early detection achievements Management with complex, requires multidisciplinary approach, only slow progression That why critically important, specific started possible gives chance down development complications. Spreading knowledge will shorten path improve provision care patients. No conflict interests was declared authors.