Current understanding and progress of research on isovaleric acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 99-102, 2022.
Article
em Zh
| WPRIM
| ID: wpr-928371
Biblioteca responsável:
WPRO
ABSTRACT
Isovaleric acidemia is a type of organic acidemia for which the earliest definite diagnosis was attained. It features an autosomal recessive inheritance, with the onset of age varying from newborn to adulthood. The clinical manifestations are complex and variable, which include feeding difficulty, vomiting, lethargy, coma, metabolic acidosis, sweaty feet odor and mental retardation. The mortality and mobility rates of isovaleric acidemia are quite high, and early diagnosis and rational treatment can significantly improve the prognosis. This article has provided a summary for the current understanding and research progress on isovaleric acidemia.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Isovaleril-CoA Desidrogenase
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Adult
/
Humans
/
Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article