Neurol. praxi. 2025;26(1):43-47 | DOI: 10.36290/neu.2025.009
Adult-onset inborn errors of metabolism with neurological manifestation
- Ústav lekárskej biológie, genetiky a klinickej genetiky LF UK a UNB, Oddelenie molekulovej a biochemickej genetiky, Bratislava
The symptoms of the nervous system are very often associated with genetic diseases. Inborn errors of metabolism represent a heterogeneous group with more than 1000 disorders. These are rare disorders and some of them are also manifested by neurological symptomatology - called as neurometabolic diseases. Genetic diagnostics is based on variety of DNA techniques and enables reliable diagnosis of many diseases. Due to the wide range of inborn errors of metabolism only a selected part is presented. We focus on disorders which are manifesting in adulthood and can be positively influenced by causal therapeutic approach. The aim of the work is to provide a brief overview. The information obtained is also valuable for genetic counselling in affected families.
Keywords: inborn errors of metabolism, neurogenetics, neurometabolic diseases.
Received: October 14, 2024; Revised: January 27, 2025; Accepted: January 27, 2025; Prepublished online: January 27, 2025; Published: March 19, 2025 Show citation
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