X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation.
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.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D006003:Glycogen / Q000378:metabolism; D006004:Glycogen Debranching Enzyme System / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006130:Growth Disorders / Q000209:etiology*; D006529:Hepatomegaly / Q000209:etiology / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology*; D010375:Pedigree; D010764:Phosphorylase Kinase / Q000378:metabolism; D014527:Uric Acid / Q000097:blood*
D006004:Glycogen Debranching Enzyme System; D014527:Uric Acid; D006003:Glycogen; D010764:Phosphorylase Kinase