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Tyrosinemia: a report of three cases from India

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Abstract

Tyrosinemia has rarely been reported from India due to lack of diagnostic facilities. We present three children, two boys and one girl, who presented with rickets and hepatomegaly. They had increased plasma and urine tyrosine levels, renal tubular acidosis, large kidneys, elevated urine succinylacetone, and chronic liver disease. Two patients also had elevated alpha-fetoprotein but no evidence of hepatocellular carcinoma. All patients are on low tyrosine–phenylalanine diet and on regular follow up.

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  1. Pediatric Hepatobiliary Clinic, B J Wadia Hospital for Children, 1/B Saguna, 271/B St Francis Road, Vile Parle (W), Mumbai, 400 056, India

    Ira Shah

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  1. Ira Shah
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Correspondence to Ira Shah.

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Shah, I. Tyrosinemia: a report of three cases from India. Indian J Gastroenterol 32, 123–126 (2013). https://doi.org/10.1007/s12664-012-0300-3

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  • DOI: https://doi.org/10.1007/s12664-012-0300-3

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