X-linked Glycogen Storage Disease: A Cause of Hypotonia, Hyperuricemia, and Growth Retardation

James P. Keating, Neil H. White, Barbara I. Brown, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish
Pages (from-to)609-613
Number of pages5
JournalAmerican Journal of Diseases of Children
Volume139
Issue number6
DOIs
StatePublished - Jun 1985

Fingerprint

Dive into the research topics of 'X-linked Glycogen Storage Disease: A Cause of Hypotonia, Hyperuricemia, and Growth Retardation'. Together they form a unique fingerprint.

Cite this