Type 7: Sly’s Route: An Insight into Mucopolysaccharidosis VII
As we traverse the world of MPS, we encounter a path less traveled, that of Mucopolysaccharidosis VII or Sly syndrome, named after William Sly, who first identified it in 1973. This type is an extremely rare form of MPS with distinctive features and an intriguing journey of discovery attached to it.
Sly syndrome takes its roots from the deficiency of the enzyme beta-glucuronidase, pivotal in the breakdown of GAGs. Like a missing piece in a puzzle, this missing enzyme leads to an accumulation of GAGs, setting the stage for a variety of symptoms that may vary widely in their intensity and progression.
The spectrum of symptoms in MPS VII could range from relatively mild to severe. Some individuals may exhibit hydrops fetalis, a severe condition that can be detected before birth. The physical manifestations of Sly syndrome are quite diverse, involving multiple body systems. It includes coarse facial features, a short stature, and an enlarged liver and spleen.
On the other end of the scale, we have individuals who may not display symptoms until later in childhood or even adulthood. It’s a trait that often makes Sly syndrome a tricky path to navigate for both patients and healthcare professionals. It presents a diagnostic challenge, like finding a needle in a haystack, given its rarity and the vast spectrum of clinical manifestations. (6)
