Publication
Title
Girl with Tyrosinemia Type 1 and executive dysfunctions treated with methylphenidate : a case report
Author
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.
Language
English
Source (journal)
Journal of inborn errors of metabolism and screening. - Thousand Oaks, CA, 2013, currens
Publication
Thousand Oaks, CA : Sage Publications , 2018
ISSN
2326-4098
Volume/pages
6 (2018) , p. 1-3
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Record
Identification
Creation 14.09.2018
Last edited 15.07.2021
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