Tyrosinemia type I: a clinico-laboratory case report.
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.
Karnik
Deepali
D
Neurochemistry Laboratory, CMC Hospital, Vellore, India.
Thomas
Niranjan
N
Eapen
C E
CE
Jana
A K
AK
Oommen
A
A
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008715:Methionine / Q000097:blood; D000608:Renal Aminoacidurias / Q000175:diagnosis; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000175:diagnosis*; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins; D014443:Tyrosine; D008715:Methionine