Abstract
Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum α-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary δ-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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Karnik, D., Thomas, N., Eapen, C.E. et al. Tyrosinemia type I: A clinico-laboratory case report. Indian J Pediatr 71, 929–932 (2004). https://doi.org/10.1007/BF02830839
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DOI: https://doi.org/10.1007/BF02830839