ABSTRACT
Abstract Hereditary tyrosinemia type 1 (HT1; OMIM 27670) is an inborn error of tyrosine metabolism, caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. This defect leads to accumulation of toxic products, which cause liver and kidney dysfunction. In patients with HT1, IQ, executive functioning, and social cognition are also affected. We report here a case report of a Belgian 11-year-old girl of Moroccan ethnicity with HT1. She had attention problems, which had a significant impact on her school functioning. Neuropsychological tests showed very low scores for processing speed and executive functioning. Therapies such as adaptations in the school and private tutoring were not sufficient to improve this. Treatment with methylphenidate showed a significant improvement in the neuropsychological test and school functioning. This case shows the importance of being alert for problems with executive functions in patients with HT1 and to consider psychopharmacological treatment.
ABSTRACT
Objective To observe the NTBC dependence of Fah-knockout mice and study the biological characteristics in order to use the model more effectively.Methods Examine the progressive changes in body weight, survival time, liver pathology and serological markers after the NTBC withdrawal.Results After removing of NTBC, Fah-knockout mice lost their body weight gradually, and finally died in 5 to 7 weeks, along with increased serum ALT, AST levels and deformation of the hepatocytes.Conclusions Fah-knockout mice have a strong drug dependence of NTBC and could be the ideal model to hereditary tyrosinemia type I and other liver injury.