EARLY DIAGNOSIS OF
TYROSINEMIA TYPE I IN THREE INFANTS
K.Utermann. J.Crone. W.D.Huber,
D.Möslinger, S.Stockler-Ipsiroglu
Children's Hospital, University of
Vienna, Austria
INTRODUCTION: Tyrosinemia type I is an
autosomal recessively inherited metabolic disorder caused by the deficiency of
the enzyme fumarylacetoacetate hydrolase resulting in the accumulation of
tyrosine and its toxic degredation products, succinylacetone mainly. Liver failure
can be prevented by early treatment with NTBC which blocks the tyrosine
degradation and prevents the accumulation of toxic metabolites. We report
clinical recognition patterns in 3 infants with tyrosinemia type I.
CASE REPORTS: In 2 patients hepatomegaly,
ascites / impaired liver function with prominent coagulopathy, hypalbuminemia
and moderatly increased transaminases combined with phosphate renal loss and
hypophoshpatemic rickets were characteristic findings. In patient 3, the
diagnostic hint was given by elevated phenylalanine-and galactose levels in
routine neonatal screening. All patients showed anemia, thrombocytopenia and
high serum alpha-fetoprotein. Diagnosis was confirmed by demonstration of
succinylacetone in urine and elevated plasma tyrosine levels.
Treatment with NTBC and low tyrosine and
phenylalanine diet resulted in significant clinical and biochemical
improvement. Despite early treatment at age 28 days. patient 3 showed the most
delayed response with additional development of regeneration nodes in the the
liver.
CONCLUSION: Tyrosinemia type I can
be recognized within in the first weeks of life by clinical and laboratory
signs of liver dysfunction combined with renal hypo-phosphatemia. Tyrosinemia
should also be considered in cases with elevated phenylalanine and galactose
levels in routine neonatal screening. Early recognition and treatment may
prevent major late sequelae.