HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Heller, S. L. Articles by Brooke, M. H. Search for Related Content PubMed PubMed Citation Articles by Heller, S. L. Articles by Brooke, M. H.

McArdle's disease with myoadenylate deaminase deficiency

Observations in a combined enzyme deficiency

Department of Neurology (Dr. Heller), Northwestern University Medical School, Chicago, IL; and the Department of Neurology (Mr. Kaiser, Mr. Planer, and Dr. Brooke) and Section of Applied Physiology, Department of Medicine (Dr. Hagberg), Washington University School of Medicine, St. Louis, MO.

Exercise and work potential of a patient with coexistent myophosphoryhse and myoadenylate deaminase (AMPDA) deficiency was compared with that of three patients with myophosphorylase deficiency alone. The patient with the combined defect failed to produce an abnormal rise in serum ammonia or hypoxanthine as seen in the other patients after forearm exercise. Maximum oxygen consumption and work rates during cycle egometer testing were similar in all patients, but well below controls. The occurrence of two defects involving short-term energy metabolism in muscle presents an opportunity to define further the metabolic role of AMPDA.

Address correspondence and reprint requests to Dr. Heller, Department of Neurology, Northwestern University Medical School, 301 E. Chicago Avenue, Chicago, IL 60611.

Supported by a grant from the Muscular Dystrophy Association.

Received June 17, 1986. Accepted for publication in final form October 7, 1986.

This article has been cited by other articles:

				J. Vissing, M. Duno, M. Schwartz, and R. G. Haller Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease Brain, June 1, 2009; 132(6): 1545 - 1552. [Abstract] [Full Text] [PDF]