A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver. Serum transaminases were elevated to 5-10 times upper limit of normal, alkaline phosphatases were 1685 U/L ( 180 s (<60) and alpha-fetoprotein 29723 μg/L (<186). Plasma tyrosine (651 μM) and methionine (1032 μM) were strongly increased. In urine, tyrosine metabolites and 4-oxo-6-hydroxyheptanoic acid were increased, but succinylacetone and succinylacetoacetate - pathognomonic for tyrosinemia type I - were repeatedly undetectable. Delta-aminolevulinic acid was normal, which is consistent with the absence of succinylacetone. Abdominal ultrasound and brain CT were normal.