INFORMATION ON INFANTILE REFSUM DISEASE

Infantile Refsum disease is a rare autosomal recessive disorder characterized biochemically by accumulation of phytanic acid in blood and tissues
Infantile Refsum disease is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Patients with Infantile Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase, a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation.
Infantile Refsum disease is one of a small group of genetic diseases called peroxisome biogenesis disorders, which are part of a larger group of diseases called the leukodystrophies. It s inherited conditions that damage the white matter of the brain and affect motor movements.

SYNONYMS OF INFANTILE REFSUM DISEASE

Synonyms and related keywords:

1. Infantile Phytanic Acid Storage Disease
2. Hypertrophic Neuropathy of Infantile Refsum
3. Infantile Refsum Disease-Infantile heredopathia atactica polyneuritiformis
4. Retinitis pigmentosa
5. Cerebellar ataxia

CAUSES OF INFANTILE REFSUM DISEASE

1. Absence of absence of peroxisome cells in the body.
2. Caused by impaired pupillary light responses
3. Mutations in the phytanoyl-CoA hydroxylase.
4. This disorder is inherited in an autosomal recessive mode.
5. A single peroxisomal enzyme defect that causes deficiency of alpha-oxidation leads to accumulation of phytanic acid in blood and tissues of patients with RD.
6. The cytotoxic effect of phytanic acid seems to be due to a combined action of Ca2+ regulation, mitochondrial depolarization, and increased reactive oxygen species generation in brain cells.

SYMPTOMS OF INFANTILE REFSUM DISEASE

Symptoms of Infantile Refsum disease are

1. Visual impairment called retinitis pigmentosa, which often leads to blindness.
2. Hearing problems that usually progress to deafness by early childhood.
3. Jerky eye movements and floppy muscle tone with lack of muscle coordination
4. Mental and growth retardation; mild abnormalities in the form and structure of the face
5. Other’s Developmental delay, ataxia, hepatomegaly, hypocholesterolemia and mild facial dysmorphism.

DIAGNOSIS OF INFANTILE REFSUM DISEASE

Diagnosis of Infantile Refsum disease is done as:

1. A combination of consistent medical history, physical exam findings, and laboratory and genetic testing
2. Blood samples from patients with Infantile Refsum disease show accumulation of various substances including phytanic acid, pipecolic acid, hydroxycholestanoic acids, glyoxylate.
3. Immunoblot tests that measure levels of specific proteins will show deficiencies in many peroxisomal enzymes.

TREATMENT OF INFANTILE REFSUM DISEASE

There is no cure or standard course of treatment for Infantile Refsum Disease .The primary treatment for Infantile Refsum Disease is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some infants and children may also require plasma exchange in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid.

Currently, treatment of patients has generally involved only supportive care and symptomatic therapy. Several studies suggest that a diet that is free of phytanic acid can limit symptoms of Infantile Refsum Disease, but this is not nearly effective as in adult Infantile Refsum disease. A useful adjunct to dietary treatment is plasmapheresis. Plasmapheresis is a procedure by which determined amounts of plasma is removed from the blood and replaced with fluids or plasma that is free of accumulated substances. While treatment strategies may mitigate some of the symptoms experienced by the patient with IRD, they do not slow the progression of the disorder. The most effective therapy in the classic Infantile Refsum disease is dietary treatment with a phytanic acid-restricted diet.