Introducing
Your new presentation assistant.
Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.
Trending searches
High Phytanic Acid accumulation
Phytanic Acid- a fatty acid found in foods
Fish
Lamb
Beef
Dairy
Research:
National Institue of Neurological Disorders and Stoke (NINDS) conducts research at the National Institutes of Health (NIH)
Focusing on prevention, treatment, and ultimately cures.
The Peroxisome makes oxidative reactions to breakdown fatty acid molecules.
The excess of hydrogen peroxide used for oxidation is destroyed by the catalase they contain
Lorem ipsum dolor sit amet, consectetuer adipiscing elit, ipsum dolor sit amet, consectetuer adipiscing elit, ipsum dolor sit amet, consectetuer adipiscing elit,
Citations:
“Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy.” PubMed, 15 March 2016, https://pubmed.ncbi.nlm.nih.gov/27114847/. Accessed 25 August 2023.
“Infantile Refsum Disease.” Child Neurology Foundation, https://www.childneurologyfoundation.org/disorder/infantile-refsum-disease/. Accessed 25 August 2023.
“Infantile Refsum Disease (IRD).” Hunter's Hope, https://www.huntershope.org/family-care/leukodystrophies/infantile-refsum-disease-ird/. Accessed 25 August 2023.
“Peroxisomes - Molecular Biology of the Cell.” NCBI, https://www.ncbi.nlm.nih.gov/books/NBK26858/. Accessed 25 August 2023.
“Phytanic acid: production from phytol, its breakdown and role in human disease.” PubMed, https://pubmed.ncbi.nlm.nih.gov/16799769/. Accessed 25 August 2023.
“Refsum Disease, Infantile | National Institute of Neurological Disorders and Stroke.” National Institute of Neurological Disorders and Stroke, 20 January 2023, https://www.ninds.nih.gov/health-information/disorders/refsum-disease-infantile. Accessed 25 August 2023.
“[Refsum disease--rare, but world-famous].” PubMed, https://pubmed.ncbi.nlm.nih.gov/11242878/. Accessed 25 August 2023.
“Refsum Disease - Symptoms, Causes, Treatment | NORD.” National Organization for Rare Disorders, https://rarediseases.org/rare-diseases/refsum-disease/. Accessed 25 August 2023.
Inherited autosomal recessive pattern:
both of the cells have to have the genetic mutation.
Sigvald Bernhard Refsum a Norwegian Neurologist found Adult Refsum Disease
Zellwegger spectrum of PBD-genetic disorders that affect the white matter of the brain and affect motor movements.
Lorem ipsum dolor sit amet, consectetuer adipiscing elit, ipsum dolor sit amet, consectetuer.