What is BVVL?

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1.

What is riboflavin transporter?

Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time.

How do you test for riboflavin transporter deficiency?

Riboflavin transporter deficiency has yet to be detected by newborn screening. A diagnosis is confirmed by molecular genetic testing. Molecular genetic testing can detect disease-causing variations in the genes known to cause these disorders, but is available only as a diagnostic service at specialized laboratories.

What is RTD illness?

RTD is a progressive and devastating neurological disorder characterized by a motor, sensory and cranial neuropathy. Patients with RTD caused by mutations in either the SLC52A2 or SLC52A3 genes are referred to as having RTD Type 2 and RTD Type 3, respectively (see RTD Types).

What is a bulbar palsy?

Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue.

What is Fazio Londe disease?

Fazio-Londe syndrome (MIM 211500, ORPHA56965) is a very rare inherited motor neuron disease of childhood and young adulthood. Few cases have been diagnosed worldwide. The disease is characterized by progressive sensorineural deafness, bulbar palsy, and respiratory compromise.

What Causes Low B2 levels?

Riboflavin depletion and/or deficiency is common before starting the gluten-free diet treatment. It frequently results from malabsorption due to damage to the small intestinal lining, but can also be depleted by excretion through diarrhea, excessive sweating or excessive urination.

How long can you live with bulbar palsy?

Life expectancy is between 6 months and 3 years from the onset of symptoms.

What is the treatment for bulbar palsy?

There is currently no known treatment for bulbar palsy. However, supportive treatments are used for the management of symptoms and underlying conditions. Certain medications may be prescribed to control drooling. A feeding tube can also be given to individuals who have severe difficulty swallowing.

Is Fazio Londe disease fatal?

Treatment is usually supportive. Riboflavin has been used with promising results. FL presents much earlier with rapidly progressive disease with stridor, facial weakness and weakness of the upper limbs and leads to death by 18 months due to the respiratory failure.

What happens if you have too little vitamin B2?

The signs and symptoms of riboflavin deficiency (also known as ariboflavinosis) include skin disorders, hyperemia (excess blood) and edema of the mouth and throat, angular stomatitis (lesions at the corners of the mouth), cheilosis (swollen, cracked lips), hair loss, reproductive problems, sore throat, itchy and red …

What kind of mutations are found in BVVL?

The genetic etiology of BVVL has recently been linked to mutations affecting the riboflavin transporter genes SLC52A2 and SLC52A3, which code for human riboflavin transporters RFVT2 and RFVT3, respectively.

How does riboflavin help maintain normal levels of vitamin B6?

The conversion of the amino acid tryptophan to niacin (sometimes referred to as vitamin B3) requires FAD [ 3 ]. Similarly, the conversion of vitamin B6 to the coenzyme pyridoxal 5’-phosphate needs FMN. In addition, riboflavin helps maintain normal levels of homocysteine, an amino acid in the blood [ 1 ].

How is riboflavin status measured in healthy people?

Riboflavin status is not routinely measured in healthy people. A stable and sensitive measure of riboflavin deficiency is the erythrocyte glutathione reductase activity coefficient (EGRAC), which is based on the ratio between this enzyme’s in vitro activity in the presence of FAD to that without added FAD [ 1, 6, 7 ].

What is the medical name for riboflavin deficiency?

Ariboflavinosis is the medical name for clinical riboflavin deficiency. Riboflavin deficiency is rarely found in isolation; it occurs frequently in combination with deficiencies of other water-soluble vitamins.