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
en Zh
| WPRIM
| ID: wpr-928371
Biblioteca responsable:
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
Base de datos:
WPRIM
Asunto principal:
Isovaleril-CoA Deshidrogenasa
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Prognostic_studies
/
Screening_studies
Límite:
Adult
/
Humans
/
Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article