Background: Tyrosinemia type II (Richner-Hanhart syndrome) is a rare autosomal recessive aminoacidopathy caused by deficiency of tyrosine aminotransferase (TAT) resulting in accumulation of tyrosine and its metabolites.Neonatal presentation is uncommon and can mimic sepsis or primary pulmonary disease.Case presentation: A term male neonate, born at 37 weeks and 1 day with a birth-weight of 1.8 kg, developed respiratory distress during the first 12 hours of his life.The sepsis panel was insignificant.An X-ray of the thorax revealed right lung consolidation and abdominal ultrasonography showed normal organ appearance during our complete diagnostic assessment.The tandem mass spectrometry (TMS) test reports received on day 7 showed high L-tyrosine levels and normal succinylacetone which suggested tyrosinemia type II.Even after starting mechanical ventilation and diet restriction, the neonate did not show any signs of improvement.The patient developed metabolic acidosis despite the ongoing supportive care and his blood test results showed pH 7.06 and HCO 3 -9.3mmol/L and lactate 13.4 mmol/L.The critical situation was explained to the family in layman terms.In the end, because of their own circumstances, they asked to take him home.The parents were explained about their child's health risks, which could lead to death during travel or at home, but despite that, they chose to leave against medical advice. Conclusion:The medical team needs to perform TMS metabolic screening right away for newborns who develop unresponsive respiratory problems and test results rule out sepsis.The early detection of this condition enables healthcare providers to start dietary tyrosine-phenylalanine restriction, which could lead to better patient outcomes.
Patel et al. (Sun,) studied this question.