title: Tyrosinemia type I: a clinico-laboratory case report.
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.
authors.affiliation: Neurochemistry Laboratory, CMC Hospital, Vellore, India.
authors.forename: Deepali
authors.initials: D
authors.lastname: Karnik
authors.forename: Niranjan
authors.initials: N
authors.lastname: Thomas
authors.forename: C E
authors.initials: CE
authors.lastname: Eapen
authors.forename: A K
authors.initials: AK
authors.lastname: Jana
authors.forename: A
authors.initials: A
authors.lastname: Oommen
mesh_terms: 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
chemical_list: D000509:alpha-Fetoproteins; D014443:Tyrosine; D008715:Methionine