Infantile Refsum disease: Difference between revisions
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{{Infobox medical condition | |||
| name = Infantile Refsum disease | |||
| image = [[File:Phytanic_acid.png|left|thumb|Phytanic acid]] | |||
| caption = Phytanic acid, accumulation of which is a characteristic of Infantile Refsum disease | |||
| synonyms = [[Heredopathia atactica polyneuritiformis]], [[Refsum disease, infantile form]] | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Retinitis pigmentosa]], [[sensorineural hearing loss]], [[ataxia]], [[peripheral neuropathy]], [[ichthyosis]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[PEX1]], [[PEX2]], [[PEX3]], [[PEX5]], [[PEX6]], [[PEX7]], [[PEX10]], [[PEX12]], [[PEX13]], [[PEX14]], [[PEX16]], [[PEX19]], [[PEX26]] genes | |||
| risks = [[Genetic inheritance]] | |||
| diagnosis = [[Genetic testing]], [[biochemical analysis]] | |||
| differential = [[Zellweger spectrum disorders]], [[Neonatal adrenoleukodystrophy]], [[Rhizomelic chondrodysplasia punctata]] | |||
| treatment = [[Dietary restriction of phytanic acid]], [[supportive care]] | |||
| prognosis = [[Variable]], often [[progressive]] | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare autosomal recessive disorder affecting lipid metabolism}} | {{Short description|A rare autosomal recessive disorder affecting lipid metabolism}} | ||
'''Infantile Refsum disease''' (IRD) is a rare [[autosomal recessive disorder]] that affects the metabolism of [[phytanic acid]], a type of [[branched-chain fatty acid]]. It is classified as a [[peroxisomal biogenesis disorder]], which is a subgroup of [[leukodystrophies]]. | '''Infantile Refsum disease''' (IRD) is a rare [[autosomal recessive disorder]] that affects the metabolism of [[phytanic acid]], a type of [[branched-chain fatty acid]]. It is classified as a [[peroxisomal biogenesis disorder]], which is a subgroup of [[leukodystrophies]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Infantile Refsum disease is caused by mutations in genes responsible for the formation and function of [[peroxisomes]], which are cellular organelles involved in the breakdown of fatty acids and other metabolites. The accumulation of phytanic acid in tissues and blood is a hallmark of the disease, leading to a variety of symptoms. | Infantile Refsum disease is caused by mutations in genes responsible for the formation and function of [[peroxisomes]], which are cellular organelles involved in the breakdown of fatty acids and other metabolites. The accumulation of phytanic acid in tissues and blood is a hallmark of the disease, leading to a variety of symptoms. | ||
==Clinical Features== | ==Clinical Features== | ||
The clinical presentation of IRD is variable but often includes: | The clinical presentation of IRD is variable but often includes: | ||
| Line 16: | Line 29: | ||
* [[Liver dysfunction]] | * [[Liver dysfunction]] | ||
* [[Ataxia]] | * [[Ataxia]] | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of infantile Refsum disease is based on clinical features, biochemical tests showing elevated levels of phytanic acid, and genetic testing to identify mutations in peroxisomal biogenesis genes. | Diagnosis of infantile Refsum disease is based on clinical features, biochemical tests showing elevated levels of phytanic acid, and genetic testing to identify mutations in peroxisomal biogenesis genes. | ||
==Treatment== | ==Treatment== | ||
There is no cure for IRD, but treatment focuses on managing symptoms and reducing phytanic acid levels through dietary restrictions. Patients are advised to avoid foods high in phytanic acid, such as dairy products, beef, and certain fish. | There is no cure for IRD, but treatment focuses on managing symptoms and reducing phytanic acid levels through dietary restrictions. Patients are advised to avoid foods high in phytanic acid, such as dairy products, beef, and certain fish. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with infantile Refsum disease varies. Early diagnosis and management can improve quality of life, but the disease often leads to progressive neurological decline. | The prognosis for individuals with infantile Refsum disease varies. Early diagnosis and management can improve quality of life, but the disease often leads to progressive neurological decline. | ||
==See also== | |||
== | |||
* [[Peroxisomal disorder]] | * [[Peroxisomal disorder]] | ||
* [[Zellweger syndrome]] | * [[Zellweger syndrome]] | ||
* [[Neonatal adrenoleukodystrophy]] | * [[Neonatal adrenoleukodystrophy]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 00:44, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Infantile Refsum disease | |
|---|---|
 | |
| Synonyms | Heredopathia atactica polyneuritiformis, Refsum disease, infantile form |
| Pronounce | N/A |
| Specialty | Neurology, Genetics |
| Symptoms | Retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuropathy, ichthyosis |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 genes |
| Risks | Genetic inheritance |
| Diagnosis | Genetic testing, biochemical analysis |
| Differential diagnosis | Zellweger spectrum disorders, Neonatal adrenoleukodystrophy, Rhizomelic chondrodysplasia punctata |
| Prevention | N/A |
| Treatment | Dietary restriction of phytanic acid, supportive care |
| Medication | N/A |
| Prognosis | Variable, often progressive |
| Frequency | Rare |
| Deaths | N/A |
A rare autosomal recessive disorder affecting lipid metabolism
Infantile Refsum disease (IRD) is a rare autosomal recessive disorder that affects the metabolism of phytanic acid, a type of branched-chain fatty acid. It is classified as a peroxisomal biogenesis disorder, which is a subgroup of leukodystrophies.
Pathophysiology[edit]
Infantile Refsum disease is caused by mutations in genes responsible for the formation and function of peroxisomes, which are cellular organelles involved in the breakdown of fatty acids and other metabolites. The accumulation of phytanic acid in tissues and blood is a hallmark of the disease, leading to a variety of symptoms.
Clinical Features[edit]
The clinical presentation of IRD is variable but often includes:
Diagnosis[edit]
Diagnosis of infantile Refsum disease is based on clinical features, biochemical tests showing elevated levels of phytanic acid, and genetic testing to identify mutations in peroxisomal biogenesis genes.
Treatment[edit]
There is no cure for IRD, but treatment focuses on managing symptoms and reducing phytanic acid levels through dietary restrictions. Patients are advised to avoid foods high in phytanic acid, such as dairy products, beef, and certain fish.
Prognosis[edit]
The prognosis for individuals with infantile Refsum disease varies. Early diagnosis and management can improve quality of life, but the disease often leads to progressive neurological decline.
