The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report
Journal of Korean Medical Science
;
: 1021-1024, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-70739
ABSTRACT
Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Sequência de Bases
/
Doença de Depósito de Glicogênio Tipo V
/
Éxons
/
Mutação da Fase de Leitura
/
Análise de Sequência de DNA
/
Deleção de Genes
/
Creatina Quinase
/
Glicogênio Fosforilase Muscular
/
Genótipo
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2014
Tipo de documento:
Artigo
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