title: McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency.
abstract: Exercise and work potential of a patient with coexistent myophosphorylase 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 ergometer 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.
authors.forename: S L
authors.initials: SL
authors.lastname: Heller
authors.forename: K K
authors.initials: KK
authors.lastname: Kaiser
authors.forename: G J
authors.initials: GJ
authors.lastname: Planer
authors.forename: J M
authors.initials: JM
authors.lastname: Hagberg
authors.forename: M H
authors.initials: MH
authors.lastname: Brooke
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D000641:Ammonia / Q000097:blood; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications*; D006012:Glycogen Storage Disease Type V / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D019271:Hypoxanthine; D007042:Hypoxanthines / Q000097:blood; D008297:Male; D008659:Metabolic Diseases / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D005082:Physical Exertion
chemical_list: D007042:Hypoxanthines; D019271:Hypoxanthine; D000641:Ammonia; D009709:Nucleotide Deaminases; D000659:AMP Deaminase