This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

A Cause of Hypotonia, Hyperuricemia, and Growth Retardation

James P. Keating, MD, MSc; Barbara I. Brown, PhD; Neil H. White, MD; Salvatore DiMauro, MD

Am J Dis Child. 1985;139(6):609-613.

Abstract
• Seven male members of one family had a form of glycogen storage disease that was inherited in an X-linked recessive pattern. The clinical manifestations included hepatomegaly, delay in growth and sexual maturation, muscular weakness in childhood, and gouty arthritis. The cause of the glycogen accumulation did not appear to be a deficiency of glucose 6-phosphatase, debrancher enzyme, phosphorylase, or phosphorylase kinase. Prognosis appeared to be good although there was significant disability during childhood.

(AJDC 1985;139:609-613)

Author Affiliations
From the Edward Mallinckrodt Department of Pediatrics (Drs Keating and White) and the Department of Biochemistry (Dr Brown), Washington University School of Medicine, St Louis; the Divisions of Gastroenterology/Nutrition (Dr Keating) and Endocrinology/Metabolism (Dr White), St Louis Children's Hospital; and the Department of Neurology, College of Physicians and Surgeons, Columbia University, New York (Dr DiMauro).

Footnotes
Reprint requests to Department of Pediatrics, St Louis Children's Hospital, 400 S Kingshighway, St Louis, MO 63110 (Dr Keating).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?