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Tyrosinemia type I: A clinico-laboratory case report

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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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Authors and Affiliations

  1. Departments of Neonatology, CMC Hospital, Vellore, India

    Niranjan Thomas & A. K. Jana

  2. Departments of Gastrointestinal Sciences, CMC Hospital, Vellore, India

    C. E. Eapen

  3. Neurochemistry Laboratory, CMC Hospital, Vellore, India

    Deepali Karnik, Niranjan Thomas, C. E. Eapen, A. K. Jana & A. Oommen

Authors
  1. Deepali Karnik
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  2. Niranjan Thomas
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  3. C. E. Eapen
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  4. A. K. Jana
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  5. A. Oommen
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Corresponding author

Correspondence to A. Oommen.

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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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