Infantile Refsum disease

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Obesity, Sleep & Internal medicine
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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

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

The clinical presentation of IRD is variable but often includes:

• Developmental delay
• 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

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

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
• Zellweger syndrome
• Neonatal adrenoleukodystrophy