Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation.
Arch Pediatr
; 26(6): 370-373, 2019 Sep.
Article
en En
| MEDLINE
| ID: mdl-31278024
ABSTRACT
We report the case of a neonate with a new, previously undescribed, glucose-6-phosphate dehydrogenase (G6PD) gene mutation, which was revealed by severe cholestasis, hyperbilirubinemia, and transient liver dysfunction. The severity of the clinical phenotype with ongoing chronic hemolytic anemia suggests that this mutation belongs to class 1 G6PD deficiency. The hemizygous mutation «c.675G>c; p.Trp225Cys¼ was detected by genomic sequencing. Since severe G6PD deficiency can be revealed by cholestasis, it is important to check G6PD enzyme activity when faced with a case of liver dysfunction in the neonatal period.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Colestasis
/
Insuficiencia Hepática
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Glucosafosfato Deshidrogenasa
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Deficiencia de Glucosafosfato Deshidrogenasa
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Arch Pediatr
Año:
2019
Tipo del documento:
Article