| Autor: |
Karolina M. Stepien, Philomena McCarthy, Eileen P. Treacy, James J. O'Byrne, Gregory M. Pastores |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 31-35 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2018.06.005 |
| Popis: |
Background: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. The clinical presentation is heterogeneous, including a neurodegenerative course with retinopathy and cardiomyopathy leading to death in early childhood and a slowly progressive disease associated with learning disability and survival into adulthood. The condition is often diagnosed in childhood. Results: This paper outlines the long-term neurocognitive outcomes in a 38-year old man with MHBDD. Several psychometric tests were used to assess his cognitive ability and adaptive functioning in childhood during an acute illness and in adulthood when the patient showed deterioration in the ability to walk or speak. Conclusions: There is an increasing demand for an accurate and objective measure of cognitive functioning that can be used to follow the natural progression of MHBDD. Psychological assessment may enable the identification of organic problems. The application and interpretation of psychometric tests used in children may vary from those used in adults. Keywords: Neurocognitive function, Psychometric test, Cognitive function, Long-term follow- up |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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