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Diagnosis and Treatment of Tyrosinemia: A Case Series

Abhijit Anil Patil and Ashwath D

Background: Hepatorenal tyrosinemia is inborn error of metabolism that affects numerous organs, particularly liver, kidneys, and peripheral nerves. Tyrosinemia is rarely reported from India due to lack of diagnostic facilities. We are reporting 3 male infants, who presented with varied clinical manifestations. All 3 of them had elevated 4- hydroxyphenyllactic acid levels in urine and elevated alpha-fetoprotein but no evidence of hepatocellular carcinoma.

Outcome: One infant is on low tyrosine-phenylalanine diet and under regular follow-up, the other two however, lost follow-up.

Conclusion: It is important to diagnose tyrosinemia as both treatment and prenatal diagnosis are possible.