Refsum disease: Difference between revisions
From WikiMD's Wellness Encyclopedia
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[[File:Phytanic_acid.png|Phytanic acid| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Refsum disease | |||
| image = [[File:Phytanic_acid.png|left|thumb|Phytanic acid]] | |||
| caption = Phytanic acid, the substance that accumulates in Refsum disease | |||
| synonyms = Heredopathia atactica polyneuritiformis | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Peripheral neuropathy]], [[retinitis pigmentosa]], [[anosmia]], [[ataxia]], [[hearing loss]], [[ichthyosis]] | |||
| onset = Typically in [[childhood]] or [[early adulthood]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[PHYH]] or [[PEX7]] gene | |||
| risks = [[Autosomal recessive]] inheritance | |||
| diagnosis = [[Blood test]] for elevated [[phytanic acid]] levels, [[genetic testing]] | |||
| differential = [[Usher syndrome]], [[Bardet-Biedl syndrome]], [[Zellweger spectrum disorders]] | |||
| prevention = [[Dietary restriction]] of [[phytanic acid]] | |||
| treatment = [[Dietary management]], [[plasmapheresis]] | |||
| prognosis = Variable, depends on [[early diagnosis]] and [[treatment]] | |||
| frequency = Rare | |||
| deaths = Rare, with proper management | |||
}} | |||
'''Refsum disease''' is a rare, autosomal recessive genetic disorder that affects the metabolism of phytanic acid, a type of fatty acid. It is characterized by the accumulation of phytanic acid in the blood and tissues, leading to a variety of symptoms. | |||
== Pathophysiology == | == Pathophysiology == | ||
Refsum disease is caused by mutations in the [[PHYH]] gene or the [[PEX7]] gene. These genes are responsible for the breakdown of phytanic acid. When these genes are mutated, phytanic acid accumulates in the body, leading to the symptoms of the disease. | Refsum disease is caused by mutations in the [[PHYH]] gene or the [[PEX7]] gene. These genes are responsible for the breakdown of phytanic acid. When these genes are mutated, phytanic acid accumulates in the body, leading to the symptoms of the disease. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Refsum disease can vary widely but often include: | The symptoms of Refsum disease can vary widely but often include: | ||
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* [[Ichthyosis]], a skin condition characterized by dry, scaly skin | * [[Ichthyosis]], a skin condition characterized by dry, scaly skin | ||
* [[Cardiomyopathy]], affecting the heart muscle | * [[Cardiomyopathy]], affecting the heart muscle | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Refsum disease typically involves: | Diagnosis of Refsum disease typically involves: | ||
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* Genetic testing to identify mutations in the [[PHYH]] or [[PEX7]] genes | * Genetic testing to identify mutations in the [[PHYH]] or [[PEX7]] genes | ||
* Clinical evaluation of symptoms | * Clinical evaluation of symptoms | ||
== Treatment == | == Treatment == | ||
There is no cure for Refsum disease, but treatment focuses on managing symptoms and reducing phytanic acid levels. This can include: | There is no cure for Refsum disease, but treatment focuses on managing symptoms and reducing phytanic acid levels. This can include: | ||
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* Plasmapheresis to remove phytanic acid from the blood | * Plasmapheresis to remove phytanic acid from the blood | ||
* Management of specific symptoms, such as vision aids for [[retinitis pigmentosa]] or physical therapy for [[peripheral neuropathy]] | * Management of specific symptoms, such as vision aids for [[retinitis pigmentosa]] or physical therapy for [[peripheral neuropathy]] | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Refsum disease varies. Early diagnosis and management can improve quality of life and reduce the risk of complications. However, the disease is progressive, and symptoms may worsen over time. | The prognosis for individuals with Refsum disease varies. Early diagnosis and management can improve quality of life and reduce the risk of complications. However, the disease is progressive, and symptoms may worsen over time. | ||
== See also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
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* [[Ichthyosis]] | * [[Ichthyosis]] | ||
* [[Cardiomyopathy]] | * [[Cardiomyopathy]] | ||
== See Also == | == See Also == | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
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[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 18:08, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Refsum disease | |
|---|---|
| Synonyms | Heredopathia atactica polyneuritiformis |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Peripheral neuropathy, retinitis pigmentosa, anosmia, ataxia, hearing loss, ichthyosis |
| Complications | N/A |
| Onset | Typically in childhood or early adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation in the PHYH or PEX7 gene |
| Risks | Autosomal recessive inheritance |
| Diagnosis | Blood test for elevated phytanic acid levels, genetic testing |
| Differential diagnosis | Usher syndrome, Bardet-Biedl syndrome, Zellweger spectrum disorders |
| Prevention | Dietary restriction of phytanic acid |
| Treatment | Dietary management, plasmapheresis |
| Medication | N/A |
| Prognosis | Variable, depends on early diagnosis and treatment |
| Frequency | Rare |
| Deaths | Rare, with proper management |
Refsum disease is a rare, autosomal recessive genetic disorder that affects the metabolism of phytanic acid, a type of fatty acid. It is characterized by the accumulation of phytanic acid in the blood and tissues, leading to a variety of symptoms.
Pathophysiology[edit]
Refsum disease is caused by mutations in the PHYH gene or the PEX7 gene. These genes are responsible for the breakdown of phytanic acid. When these genes are mutated, phytanic acid accumulates in the body, leading to the symptoms of the disease.
Symptoms[edit]
The symptoms of Refsum disease can vary widely but often include:
- Retinitis pigmentosa, leading to progressive vision loss
- Peripheral neuropathy, causing muscle weakness and numbness
- Cerebellar ataxia, resulting in coordination problems
- Hearing loss
- Ichthyosis, a skin condition characterized by dry, scaly skin
- Cardiomyopathy, affecting the heart muscle
Diagnosis[edit]
Diagnosis of Refsum disease typically involves:
- Blood tests to measure levels of phytanic acid
- Genetic testing to identify mutations in the PHYH or PEX7 genes
- Clinical evaluation of symptoms
Treatment[edit]
There is no cure for Refsum disease, but treatment focuses on managing symptoms and reducing phytanic acid levels. This can include:
- Dietary restrictions to limit intake of phytanic acid
- Plasmapheresis to remove phytanic acid from the blood
- Management of specific symptoms, such as vision aids for retinitis pigmentosa or physical therapy for peripheral neuropathy
Prognosis[edit]
The prognosis for individuals with Refsum disease varies. Early diagnosis and management can improve quality of life and reduce the risk of complications. However, the disease is progressive, and symptoms may worsen over time.
See also[edit]
- Genetic disorder
- Autosomal recessive inheritance
- Fatty acid metabolism
- Retinitis pigmentosa
- Peripheral neuropathy
- Cerebellar ataxia
- Ichthyosis
- Cardiomyopathy
See Also[edit]
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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