Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate: A Case Report
J. inborn errors metab. screen
;
6: e180003, 2018. tab
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090967
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.
Full text:
Available
Index:
LILACS (Americas)
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2018
Type:
Article
Affiliation country:
Belgium
Institution/Affiliation country:
UKJA/BE
/
Universitair Ziekenhuis Antwerpen/BE
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