A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
Cassiman, David × Zeevaert, Renate Holme, Elisabeth Kvittingen, Eli-Anne Jaeken, Jaak #
Biomed central ltd
Orphanet journal of rare diseases vol:4 pages:1-6
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 (< 720), total bilirubin was 2.53 mg/dl (< 1.0), ammonaemia 69 mu M (< 32), prothrombin time less than 10%, thromboplastin time > 180 s (< 60) and alpha-fetoprotein 29723 mu g/L (< 186). Plasma tyrosine (651 mu M) and methionine (1032 mu M) 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.