Journal
MOLECULAR GENETICS AND METABOLISM
Volume 105, Issue 1, Pages 10-15Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.10.003
Keywords
Propionic acidemia; Neurological; Seizure; Neuroimaging; Spectroscopy; Inborn error of metabolism
Funding
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [Z01HG200318, ZIAHG200318] Funding Source: NIH RePORTER
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Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities. As the PA consensus conference hosted by Children's National Medical Center progressed from January 28 to 30, 2011, it became evident that neurological complications were common and a major component of morbidity, but the role of imaging and the basis for brain pathophysiology were unclear. This paper reviews the hypothesized pathophysiology, presentation and uses the best available evidence to suggest programs for treatment, imaging, and monitoring the neurological complications of PA,
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