Liver Disorders Caused by Inborn Errors of Metabolism.
Endocr Metab Immune Disord Drug Targets
; 24(2): 194-207, 2024.
Article
en En
| MEDLINE
| ID: mdl-37357514
ABSTRACT
Inborn errors of metabolism (IEMs) are a vast array of inherited/congenital disorders, affecting a wide variety of metabolic pathways and/or biochemical processes inside the cells. Although IEMs are usually rare, they can be represented as serious health problems. During the neonatal period, these inherited defects can give rise to almost all key signs of liver malfunction, including jaundice, coagulopathy, hepato- and splenomegaly, ascites, etc. Since the liver is a vital organ with multiple synthetic, metabolic, and excretory functions, IEM-related hepatic dysfunction could seriously be considered life-threatening. In this context, the identification of those hepatic manifestations and their associated characteristics may promote the differential diagnosis of IEMs immediately after birth, making therapeutic strategies more successful in preventing the occurrence of subsequent events. Among all possible liver defects caused by IEMs, cholestatic jaundice, hepatosplenomegaly, and liver failure have been shown to be manifested more frequently. Therefore, the current study aims to review substantial IEMs that mostly result in the aforementioned hepatic disorders, relying on clinical principles, especially through the first years of life. In this article, a group of uncommon hepatic manifestations linked to IEMs is also discussed in brief.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hepatopatías
/
Errores Innatos del Metabolismo
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Endocr Metab Immune Disord Drug Targets
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
ENDOCRINOLOGIA
/
METABOLISMO
/
TERAPIA POR MEDICAMENTOS
Año:
2024
Tipo del documento:
Article
País de afiliación:
Irán