Abstract
Inborn errors of metabolism (IEM) comprise a heterogeneous group of more than 1000 diseases with extreme clinical variability and severity of manifestation. These disorders often present themselves mainly in childhood.
However, a number of less severe and later onset forms often with a varied psychiatric manifestation (PM) has been described lately. Since the diseases are rare, clinical experience with particular disorder is usually diminutive.
The aim of this work is to shed light upon the issue of PM in patients with IEM. Typical examples of such disorders are urea cycle defects, disorders of sulfur amino acids metabolism, acute porphyrias, Niemann-Pick disease type C, Tay-Sachs disease, adult form of metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Wilson disease and mitochondrial diseases.