Article
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
Orphanet journal of rare diseases - 15 Dec 2009
Cassiman David, Zeevaert Renate, Holme Elisabeth, Kvittingen Eli-Anne, Jaeken Jaak
Abstract excerpt
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 microM (<32), prothrombin time...
Topics
- Child
- Fibroblasts
- Heptanoates
- Humans
- Hydrolases
- Liver
- Male
- Mutation
- Polymerase Chain Reaction
- Restriction Mapping
- Sequence Analysis, DNA
- Tyrosine
- Tyrosinemias