Infantile Refsum disease: Difference between revisions

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{{Infobox medical condition (new)
{{SI}}
{{Infobox medical condition
| name            = Infantile Refsum disease
| name            = Infantile Refsum disease
| synonyms        = ''Infantile phytanic acid storage disease'''<ref name=omim>{{OMIM|266510}}</ref>
| image          = [[File:Phytanic_acid.png|left|thumb|Phytanic acid]]
| image          = Phytanic acid.png
| caption        = Phytanic acid, accumulation of which is a characteristic of Infantile Refsum disease
| caption        = [[Phytanic acid]]
| synonyms        = [[Heredopathia atactica polyneuritiformis]], [[Refsum disease, infantile form]]
| pronounce       =  
| specialty       = [[Neurology]], [[Genetics]]
| field          =
| symptoms        = [[Retinitis pigmentosa]], [[sensorineural hearing loss]], [[ataxia]], [[peripheral neuropathy]], [[ichthyosis]]
| symptoms        =  
| onset          = [[Infancy]]
| complications  =
| duration        = [[Chronic]]
| onset          =  
| causes          = Mutations in the [[PEX1]], [[PEX2]], [[PEX3]], [[PEX5]], [[PEX6]], [[PEX7]], [[PEX10]], [[PEX12]], [[PEX13]], [[PEX14]], [[PEX16]], [[PEX19]], [[PEX26]] genes
| duration        =  
| risks          = [[Genetic inheritance]]
| types          =
| diagnosis      = [[Genetic testing]], [[biochemical analysis]]
| causes          =  
| differential    = [[Zellweger spectrum disorders]], [[Neonatal adrenoleukodystrophy]], [[Rhizomelic chondrodysplasia punctata]]
| risks          =  
| treatment      = [[Dietary restriction of phytanic acid]], [[supportive care]]
| diagnosis      =  
| prognosis      = [[Variable]], often [[progressive]]
| differential    =  
| frequency      = Rare
| prevention      =
| treatment      =  
| medication      =
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
'''Infantile Refsum disease''' ('''IRD'''), is a rare [[autosome|autosomal]] [[dominance (genetics)|recessive]].  
{{Short description|A rare autosomal recessive disorder affecting lipid metabolism}}
Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements.
'''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==
==Classification==
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.
PBDs are part of a larger group of disorders called the leukodystrophies.  The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bone. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function. When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens--specialized lipids found in cell membranes and the myelin sheaths and encase and protect nerve fibers..  IRD has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome.
==Clinical Features==
 
The clinical presentation of IRD is variable but often includes:
==Signs and symptoms==
* [[Developmental delay]]
Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood.  Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain myelin.  At the mildest extreme of the disorder, intellect may be preserved.  Although Adult [[Refsum disease]] and IRD have similar names, they are separate disorders caused by different gene defects.
* [[Hearing loss]]
 
* [[Vision impairment]]
* [[Hypotonia]]
* [[Liver dysfunction]]
* [[Ataxia]]
==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.
==Treatment==
==Treatment==
The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock.  Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens.
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==
IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.
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.
{{stub}}
==See also==
== External links ==
* [[Peroxisomal disorder]]
{{Medical resources
* [[Zellweger syndrome]]
|  DiseasesDB      = 14248 
* [[Neonatal adrenoleukodystrophy]]
|  ICD10          = G60.1
[[Category:Genetic disorders]]
|  ICD9            = 
[[Category:Metabolic disorders]]
|  ICDO            = 
|  OMIM            = 266510 
|  MedlinePlus    = 
|  eMedicineSubj  = 
|  eMedicineTopic  = 
|  MeshID          = D052919 
|  Orphanet        = 772
}}
{{Peroxisomal disorders}}
 
{{DEFAULTSORT:Infantile Refsum disease}}
[[Category:Peroxisomal disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Genodermatoses]]
[[Category:Neurodegenerative disorders]]

Latest revision as of 00:44, 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

Infantile Refsum disease
Phytanic acid
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.

See also[edit]

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