Fumarase Deficiency with Spastic Quadriplegia: A case report
Journal of the Korean Academy of Rehabilitation Medicine
;
: 793-798, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-723545
ABSTRACT
Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It causes mitochondrial encephalomyopathy. The symptom is characterized by developmental delay and hypotonia. We report here a case of a 32-month-old child who was initially refered because of spastic quadriplegia, delayed development and poor feeding.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Quadriplegia
/
Ciclo do Ácido Cítrico
/
Encefalomiopatias Mitocondriais
/
Fumarato Hidratase
/
Metabolismo
/
Hipotonia Muscular
/
Espasticidade Muscular
Limite:
Criança
/
Criança, pré-escolar
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Academy of Rehabilitation Medicine
Ano de publicação:
2000
Tipo de documento:
Artigo
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