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The Dwarf Pony

Mucopolysaccharidosis Type VII

Only a few (about 100) patients with a mucopolysaccharidosis type VII (MPS VII, Sly disease, deficiency of Beta-glucuronidase) have been described. The phenotypic spectrum of this enzyme defect ranges form letal hydrops fetalis to a very mild form with only slight skeletal deformities. Symptoms of the severe form are comparable to those seen in other mucopolysaccharidoses.

Synonym: Sly syndrome
Etiology: Deficiency of beta-glucuronidase
Gene: GUSB Gene
Leading symptoms:

Hydrops fetalis (prenatal form)
Facial dysmorphia
Dysostosis multiplex
Umbilical/ inguinal hernia
Psychomotor development delay
Corneal clouding
Hearing impairment
Hepatosplenomegaly

Diagnostics:

Measurement of the activity of beta-glucuronidase
Molecular genetic analysis of the GUSB Gene

Therapy:
Vestronidase alfa (Mepsevii®)

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