• We studied two cases of β-glucuronidase deficiency. One patient's disease was present at birth and the other patient's disease appeared in early childhood. The symptoms observed in both patients, although of differing severity, included peculiar facies, cloudy cornea, hepatosplenomegaly, hernia, kyphosis, recurrent infections, short stature, and developmental delay, as well as increased excretion of urinary chondroitin sulfate A/C and decreased levels of β-glucuronidase activity. We reviewed all of the reported cases and examined the biochemical and clinical heterogeneity observed in this disorder.
Lee JES, Falk RE, Ng WG, Donnell GN. β-Glucuronidase Deficiency: A Heterogeneous Mucopolysaccharidosis. Am J Dis Child. 1985;139(1):57–59. doi:10.1001/archpedi.1985.02140030059029
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