A newborn infant with generalized glutathione synthetase deficiency.
Turk J Pediatr
; 46(1): 72-5, 2004.
Article
en En
| MEDLINE
| ID: mdl-15074378
ABSTRACT
Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. We report a female infant who had a severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia. High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Glutatión Sintasa
/
Errores Innatos del Metabolismo
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Turk J Pediatr
Año:
2004
Tipo del documento:
Article
País de afiliación:
Turquía