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Mukopolysaccharidose Typ IX | SphinCS.de

Das Zwergpony

Mukopolysaccharidose Typ IX

Als Mukopolysaccharidose Typ IX (Defekt des Enzymes Hyaluronidase) wurde ein Krankheitsbild beschrieben, das sich durch Kleinwuchs und periartikuläre Weichteilschwellungen, jedoch ohne neurologische oder viszerale Symptome, auszeichnet.  Nach der Erstbeschreibung durch Natowicz und Mitarbeiter im Jahr 1996 ist über weitere Fälle aus einer einzigen Familie berichtet worden, die alle das Bild einer juvenilen Arthritis boten.

Mukopolysaccharidose Typ IX | SphinCS - Clinical Science for LSD

Ätiologie:  Defizienz der Hyaluronidase 1
Gen: HYAL1-Gen
Vererbungsmodus: autosomal-rezessiv
Leitsymptome: Skelettale Deformitäten
Diagnostik:

Therapie:
Nur symptomatisch


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