Pediatr. praxi. 2013;14(2):99-103

Lysosomal storage diseases: current diagnostic and therapeutic options

MUDr.Věra Malinová, doc.MUDr.Tomáš Honzík, Ph.D.

Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze

Lysosomal storage diseases are rare genetic diseases caused by insufficient activity of some of the lysosomal enzymes and/or transport

proteins. Initial symptoms may appear any time from the neonatal period to late adulthood; early forms tend to have a severe course

with rapid progression and unfavorable prognosis. There is multisystem involvement with continuous progression of symptoms and

involvement of metabolically active organs or tissues – the bone marrow, liver, bones, skeletal muscles, myocardium, or CNS. The diagnosis

is definitively confirmed by demonstration of reduced activity of the particular enzyme and by mutation analysis. Some of the storage

diseases can be effectively treated by intravenous administration of recombinant enzymes or by limiting the amount of the substrate

stored. In a small number of lysosomal storage diseases, bone marrow transplantation is successful. Multidisciplinary collaboration,

including genetic counseling and prenatal diagnosis in patient families, is required. The first part of the paper deals with general characteristics

of lysosomal storage diseases and the most common diseases that are currently treatable in the Czech Republic (Gaucher’s

disease, Pompe disease, Fabry disease, Niemann–Pick disease, cholesterol ester storage disease). The second part of the paper deals

with mucopolysaccharidoses, another group of rare lysosomal storage diseases.

Keywords: lysosomal storage disease, diagnosis, enzyme replacement therapy, substrate reduction therapy

Published: May 1, 2013  Show citation