Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.

Abstract

In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with Richner-Hanhart syndrome, mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight neurological abnormalities. Sequencing analysis of the TAT gene revealed a novel homozygous missense mutation c.1250G>A (p.R417Q) in exon 12, and herewith confirmed the clinical diagnosis. Showing the first symptoms in babyhood, at the age of 8 years it was for the first time clinically diagnosed that the patient suffers from tyrosinemia type II and a therapy with tyrosine and phenylalanine reduced diet has been started successfully. All symptoms disappeared within 2-4 weeks. Since that time, we have been following the girl until today for more than ten years. She is in a good condition, and attends the normal high school program.

• Authors: Vida Culic, Regina C Betz, Melanie Refke, Ksenija Fumic, Jasminka Pavelic
• Journal: European journal of medical genetics (Eur J Med Genet) 2011 May-Jun Vol. 54 Issue 3 Pg. 205-8 ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 21145993 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Chemical References

• Tyrosine Transaminase

Topics

• Base Sequence
• Corneal Diseases (enzymology, genetics, pathology)
• DNA Mutational Analysis
• Female
• Humans
• Keratoderma, Palmoplantar (enzymology, genetics, pathology)
• Mutation, Missense
• Syndrome
• Tyrosine Transaminase (deficiency, genetics)
• Tyrosinemias (enzymology, genetics, pathology)
• Young Adult