Research progress on the prognosis of patients with various types of Methylmalonic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 892-895, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-981843
ABSTRACT
Methylmalonic acidemia (MMA) is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations, in particular neurological symptoms such as vomiting, lethargy, etc. Even with timely treatment, patients may still have various degrees of neurological complications and can even die. The prognosis is mainly related to the type of genetic variants, level of metabolites, newborn screening, onset of disease and early initiation of treatment. This article has reviewed the prognosis of patients with various types of MMA and factors that may affect it.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pronóstico
/
Tamizaje Neonatal
/
Acidemia Propiónica
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Mutación
Límite:
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS