Infantile Refsum Disease

Treatments:

There are currently no treatments besides avoiding foods high in phytanic acid

Peroxisome

Symptoms:

Retinis pigmentosa

Hearing problems, deafness

Jerky eye movements

Floppy muscle tone

Lack of coordination

Enlarged liver

Mental and growth disabilities

Dismorphic features

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.

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How homeostatis is affected:

Harms neural cells by imparing Calcium Ion balance, and de-energizing mitochondria.

Leads to accelerated cell death

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

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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.

Infantile Refsum Disease

AKA: IRD

Heimler Syndrome

Inherited autosomal recessive pattern:

both of the cells have to have the genetic mutation.

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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.

Diagnosis:

-There are physical signs

-Blood testing of Phytanic acid

-Genetic testing

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There is a wide range of life expectancy

- Many don't live past a year old but some make it into adulthood

- Motor functions and senses can be hindered

- Parents need to be more attentive and may experience emotional struggles

My presentation

April 2023