McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency.
Neurology
; 37(6): 1039-42, 1987 Jun.
Article
em En
| MEDLINE
| ID: mdl-3473311
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio
/
Doença de Depósito de Glicogênio Tipo V
/
Esforço Físico
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AMP Desaminase
/
Doenças Metabólicas
/
Nucleotídeo Desaminases
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
1987
Tipo de documento:
Article