Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory. Monitoring OTCD progression and investigating...

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Bibliographic Details
Published in:Frontiers in neurology 2020-08, Vol.11, p.809-809
Main Authors: Anderson, Afrouz A, Gropman, Andrea, Le Mons, Cynthia, Stratakis, Constantine A, Gandjbakhche, Amir H
Format: Article
Language:English
Subjects:
cerebral autoregulation
fNIRS
functional connectivity
functional near infrared spectroscopy
Neurology
Ornithine transcarbamylase deficiency
urea cycle disorders
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Summary:Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory. Monitoring OTCD progression and investigating neurocognitive biomarkers can, therefore, become critical in understanding the underlying brain function in a population with OTCD. We used functional near infrared spectroscopy (fNIRS) to examine the hemodynamics of prefrontal cortex (PFC) in a fraternal twin with and without OTCD. fNIRS is a non-invasive and wearable optical technology that can be used to assess cortical hemodynamics in a realistic clinical setting. We quantified the hemodynamic variations in total-hemoglobin as assessed by fNIRS while subjects performed the -back working memory (WM) task. Our preliminary results showed that the sibling with OTCD had higher variation in a very low frequency band (
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2020.00809