Abstract
The mucopolysaccharidosis (MPS) type VI is a rare lysosomal storage disease presenting leukocyte inclusions (Alder-Reilly anomaly) and lymphocytes with metachromatic inclusion surrounded by clear spaces, Gasser cells. Currently, an enzyme replacement therapy (ERT) with galsulfase is used to treat MPS type VI. This study evaluated 14 patients with MPS type VI performed cell counts Gasser before and after six months from the beginning of ERT. It was observed an average of 12.7% cells per patient, and after six months was found complete cell Gasser disappearance, proving to be an effective biomarker of response to ERT.
Highlights
Mucopolysaccharidosis (MPS) VI, or Maroteaux-Lamy syndrome, is a rare autosomal recessive lysosomal storage disease characterized by rapidly progressing systemic manifestations (Khan et al, 2017)
The clinical features observed in MPS VI varied among the 14 patients before enzyme replacement therapy (ERT), hepatosplenomegaly was observed in 50% of the patients (n = 7), corneal clouding in 42.8% (n = 6), umbilical and inguinal hernias in 28.5% (n = 4) and short stature in 92.8% (n = 13)
This study showed an association between enzyme replacement therapy with galsulfase for MPS type VI and Gasser cells' clearance six months after the treatment
Summary
Mucopolysaccharidosis (MPS) VI, or Maroteaux-Lamy syndrome, is a rare autosomal recessive lysosomal storage disease characterized by rapidly progressing systemic manifestations (Khan et al, 2017). MPS VI is caused by reduced or absent activity of the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B) responsible for the degradation of dermatan sulfate, a glycosaminoglycan (GAG). This deficiency leads to the accumulation of this complex carbohydrate inside cells, tissues, and organs, causing cell dysfunction and severe organ damage (Giugliani et al, 2007). The MPS disorders are classified into seven different types, but only MPS VI shows leukocyte inclusions (Alder-Reilly anomaly). Lymphocytes with these inclusion bodies are called Gasser cells and are characterized by metachromatic inclusions surrounded by a clear space (Heron et al, 2004; Fenneteau et al, 2009)
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