Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.
Ann Biol Clin (Paris)
; 75(4): 445-449, 2017 Aug 01.
Article
em En
| MEDLINE
| ID: mdl-28751290
ABSTRACT
Myoadenylate deaminase deficit (MAD, MIM#615511) is the most common cause of metabolic myopathies with an estimated prevalence of 1-2% in the general population. We report the case of a 39-year-old man suffering from severe skeletal muscle pain that had developed gradually for 4 years. A moderate increase in creatine kinase (CK) was the only biological sign observed. This study takes a closer look at a common but poorly known pathology and highlights the interest of the dynamic metabolic investigations carried out during exercise stress test with a cycle ergometer. Our non-invasive clinical and biological examination, at the interface between physiology and biology, disclosed the total absence of a physiological increase in plasma ammonia evocative of MAD. However, MAD was later confirmed by histochemistry and molecular studies, which revealed the presence of the recurrent homozygous pathogenic variant affecting the adenosine monophosphate deaminase 1 gene (AMPD1) in most patients with MAD.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo da Purina-Pirimidina
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Teste de Esforço
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Mialgia
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AMP Desaminase
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Ann Biol Clin (Paris)
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
França