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A Heterogeneous Mucopolysaccharidosis

Jo Ellen Sheets Lee, PhD; Rena E. Falk, MD; Won G. Ng, PhD; George N. Donnell, MD

Am J Dis Child. 1985;139(1):57-59.

Abstract
• 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)

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.

Footnotes
Read before the Western Society for Pediatric Research, Carmel, Calif, Feb 8, 1983.

Reprint requests to Biochemistry Lab, Childrens Hospital of Los Angeles, PO Box 54700, Los Angeles, CA 90054 (Dr Lee).

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