Tyrosinemia type I: a clinico-laboratory case report.
Indian J Pediatr
;
2004 Oct; 71(10): 929-32
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Tyrosine
/
Female
/
Humans
/
Infant, Newborn
/
Alpha-Fetoproteins
/
Tyrosinemias
/
Renal Aminoacidurias
/
Methionine
Language:
English
Journal:
Indian J Pediatr
Year:
2004
Type:
Article
Similar
MEDLINE
...
LILACS
LIS