Abstract
Abstract Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders. We suggest that for further research a model of synergistic heterozygosity can become a convenient tool. In that case the use of inherited metabolic disorders as a multisystem research model can provide both significant theoretical and practical results. At the initial stage of this hypothesis evaluation, it seems efficient to screen for mental symptoms the families of patients with inherited metabolic disorders.
Highlights
Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders
Patients with inherited metabolic disorders (IMD) are frequently diagnosed with mental disorders in adulthood
This was shown by a retrospective evaluation of patients with various IMD (Wilson’s disease, Niemann-Pick disease type C, acute porphyria and cerebrotendinous xanthomatosis)[1,2]
Summary
Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders. The study of mental disorders in patients with inherited metabolic disorders (IMD) has recently become the object of intensive research. Patients with IMD are frequently diagnosed with mental disorders in adulthood. Mental symptoms in such cases are often isolated for many years before the manifestation of more specific metabolic ones.
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