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January 1985

β-Glucuronidase Deficiency: A Heterogeneous Mucopolysaccharidosis

Author Affiliations

From the Division of Medical Genetics (Drs Lee, Falk, Ng, and Donnell) and the Department of Pediatrics (Dr Donnell), Childrens Hospital of Los Angeles.

Am J Dis Child. 1985;139(1):57-59. doi:10.1001/archpedi.1985.02140030059029

• 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.

(AJDC 1985;139:57-59)