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Case Report

A Rare Entity in a Common Condition - Congenital Tyrosinemia Type 1

Nandish H.R., Resident, Department of Pediatrics, Topiwala National Medical College & BYL Nair Charitable Hospital, Mumbai, Maharashtra 400008, India. , Nandish H.R.1 , Sushma Keshav2 , Santosh Kondekar3 , Surbhi Rathi4 , DeepikaTiwari5

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Pediatric Education and Research 6(3):p 165-166, Sep-Dec 2018. | DOI: https://dx.doi.org/10.21088/per.2321.1644.6318.6

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Abstract

Tyrosenemia type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumarylacetoacetate hydrolase. It has an autosomal recessive pattern of inheritance. The accumulation of tyrosine and its toxic metabolites succinyl acetone and succinyl acetoacetate in various tissues leads to the charecteristic hepatic failure, renal dysfunction and neurological crisis. Here we report 21 months old child presented with signs and symptoms of hepatic failure. This case report highlights that clinical examination has not lost its significance even in this new era of advanced extensive investigations.

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DOI: https://dx.doi.org/10.21088/per.2321.1644.6318.6

Keywords

Congenital Tyrosinemia; Neurological Crisis; Tyrosin.

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