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SphinCS - SphinCS.de
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Mukopolysaccharidose Typ IVA | SphinCS.de

Das Zwergpony

Mukopolysaccharidose Typ IVA

Die Mukopolysaccharidosen Typ IVA ((MPS IVA,  M. Morquio A, Defekt es Enzyms Azetylgalaktosamine-6-sulfatase) und Typ IVB (MPS IVB, M. Morquio B, Defekt des Enzym Beta-Galaktosidase) stellen vor allem eine Skelett-Erkrankung dar: Schwere Deformierungen der Wirbelsäule, des Thorax und der Extremitäten führen zu einem disproportionierten Minderwuchs mit einer Körper-Endlänge von etwa 120 cm. Es sind jedoch auch leichte Verlaufsformen bekannt geworden mit einer fast normalen Körpergröße. Die Gelenke sind schlaff, häufige Komplikationen sind eine Instabilität des kranio-zervikalen Überganges mit Gefahr der Querschnittslähmung, Hornhauttrübung und Hörstörungen.  Die geistige Entwicklung der Patienten ist immer normal.

Mukopolysaccharidose Typ IVA | SphinCS - Clinical Science for LSD

Synonym: Morbus Morquio A
Ätiologie: Defizienz der N-Acetyl-Galactosamin-6-Sulfat-Sulfatase
Gen: GALNS-Gen
Vererbungsmodus: Autosomal-rezessiv
Leitsymptome:

Diagnostik:

Therapie:
Elosulfase alfa (Vimizim®)


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