Publication |
2017
Abstract
Inherited metabolic disorders (IMD) are a heterogeneous group of diseases caused by mutations in genes encoding enzymes and other proteins of the cell metabolism. IMD can present in any age.
Patients with late-onset forms IMD develop the first clinical signs in adulthood. The early diagnosis is essential for treatment.
Special laboratory tests avilable in specialized metabolic centres are necessary for the diagnostics of IMD. The aim of this article is to outline possibilities of potential cooperation between general practitioners and Ústav dědičných metabolických poruch VFN a 1.
LF UK Praha (ÚDMP).