Tyrosinemia type I: a clinico-laboratory case report.
Indian J Pediatr
;
2004 Oct; 71(10): 929-32
Artigo
em Inglês
| IMSEAR
| ID: sea-84613
ABSTRACT
Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib. Classical tyrosinemia type I arises from a deficiency of fumarylacetoacetate hydrolase while the variant tyrosinemia type Ib results from a deficiency of maleylacetoacetate isomerase.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tirosina
/
Feminino
/
Humanos
/
Recém-Nascido
/
Alfa-Fetoproteínas
/
Tirosinemias
/
Aminoacidúrias Renais
/
Metionina
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2004
Tipo de documento:
Artigo
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