Mayorandan et al. performed a cross-sectional study on Hepatorenal tyrosinaemia. Questionnaires were used to collect retrospective data about 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel). The results of this study highlight the importance of NTBC accompanied by natural protein restriction (supplemented with essential amino acids) in the prevention of complications such as liver failure, hepatocellular carcinoma and renal disease. The main points brought forward by Mayorandan et al. are summarized below:
- NTBC dosage should be reduced to the minimal dose allowing metabolic control (defined as succinylacetone below detection limit, plasma tyrosine <400 ?M, and NTBC-levels in the therapeutic range 20–40 ?M).
- Side effects of NTBC are mild and often transient.
- Indications for liver transplantation: (1) hepatocellular carcinoma or (2) failure to respond to NTBC
- Follow-up should include, on top of therapeutic monitoring (succinylacetone, tyrosine, NTBC in blood): liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing.
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Mayorandan et al. Orphanet J Rare Dis. 2014 Aug 1;9(1):107. PMID: 25081276
Posted by Yannis Trakadis, MD