2. Academic Validation
  3. Tyrosinemia type I: a clinico-laboratory case report

Tyrosinemia type I: a clinico-laboratory case report

  • Indian J Pediatr. 2004 Oct;71(10):929-32. doi: 10.1007/BF02830839.
Deepali Karnik 1,  Niranjan Thomas,  C E Eapen,  A K Jana,  A Oommen
Affiliations

Affiliation

  • 1 Neurochemistry Laboratory, CMC Hospital, Vellore, India.
PMID: 15531838 DOI: 10.1007/BF02830839
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.

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