Lysosomal storage disorders as the cause of dyslipoproteinemia

Česká verzia

Authors: Anna Hlavatá; Katarína Juríčková
Authors place of work: Detská klinika LF UK a NÚDCH, Centrum dedičných metabolických porúch, Bratislava
Published in the journal: AtheroRev 2018; 3(3): 184-191
Category: Reviews

Summary

Lysosomal storage disorders (LSDs) belong to group of rare, inborn, inherited diseases. They are caused by insufficient activity of certain lysosomal enzymes, by error of a transport protein or by malfunction of an enzymatic activator. Onset of symptoms occur anytime from infancy until adulthood. Early onset forms of disorders are commonly linked with severe natural course, quick progression of organ failure and with generally poor prognosis. Late onset of disorder, during adulthood, is commonly linked with mild form of disease. Without appropriate therapy they also lead to sever organ failure. Natural course of these disorders is multisystemic with progression of clinical impairments. The most affected are metabolic active tissues and organs: bone marrow, liver, bones, muscles, myocardium or central nervous system. Although dyslipoproteinemia is a common finding during routine biochemical screening it is often overseen and can prolong the time needed for establishing the right diagnosis. Authors of this paper are discussing some of the LSD connected with dyslipoproteinemia, which are currently treatable. They are describing clinical presentation, diagnostic procedures and actual therapeutic approaches of inborn errors of metabolism.

Key words:

diagnostic approach, dyslipoproteinemia, enzyme replacement therapy, lysosomal storage disorders, substrate reducing therapy

Received: 24. 9. 2018

Accepted: 1. 10. 2018

Zdroje

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