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Riboflavin transporter deficiency


Información en español Title


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Other Names:
Pontobulbar palsy and neurosensory deafness; BVVLS; Pontobulbar palsy with deafness; Pontobulbar palsy and neurosensory deafness; BVVLS; Pontobulbar palsy with deafness; Progressive bulbar palsy with sensorineural deafness; Brown-Vialetto-van Laere syndrome See More
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases
This disease is grouped under:
Progressive bulbar palsy

Summary Summary


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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.[1][2] When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it begins in childhood or early adulthood, sensorineural deafness is usually the first symptom.[3] Other signs and symptoms may include vocal cord paralysis, droopy eyelids, facial weakness, slurred speech, difficulty swallowing, visual problems, autonomic dysfunction, breathing difficulties, and weakness of the neck, shoulder, and limbs.[1][2]

Riboflavin transporter deficiency may be caused by mutations in the SLC52A2 or SLC52A3 genes. Inheritance is autosomal recessive.[3] Treatment with riboflavin therapy has been used since 2010 and appears to be effective and possibly life-saving. Without treatment, affected infants typically survive less than one year.[1]
Last updated: 3/8/2017

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 58 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Bulbar palsy 0001283
Progressive hearing impairment 0001730
30%-79% of people have these symptoms
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ]
0000496
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Facial palsy
Bell's palsy
0010628
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Limb muscle weakness
Limb weakness
0003690
Muscular hypotonia
Low or weak muscle tone
0001252
Myoclonus 0001336
Ptosis
Drooping upper eyelid
0000508
Respiratory insufficiency
Respiratory impairment
0002093
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
5%-29% of people have these symptoms
Abnormal autonomic nervous system physiology 0012332
Abnormality of macular pigmentation 0008002
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
0000718
Ataxia 0001251
Cachexia
Wasting syndrome
0004326
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Color vision defect
Abnormal color vision
Abnormality of color vision
[ more ]
0000551
Diabetes insipidus 0000873
Gynecomastia
Enlarged male breast
0000771
Hallucinations
Hallucination
Sensory hallucination
[ more ]
0000738
Hypertension 0000822
Hypogonadism
Decreased activity of gonads
0000135
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Iris hypopigmentation
Light eye color
0007730
Optic disc pallor 0000543
Seizure 0001250
Sleep apnea
Pauses in breathing while sleeping
0010535
Tremor 0001337
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
Percent of people who have these symptoms is not available through HPO
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
0001317
Ankle clonus
Abnormal rhythmic movements of ankle
0011448
Autosomal recessive inheritance 0000007
Clumsiness 0002312
Cranial nerve motor loss 0007097
Diaphragmatic weakness
Weak diaphragm
0009113
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Hand muscle atrophy
Hand muscle degeneration
0009130
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Knee clonus 0011449
Kyphosis
Hunched back
Round back
[ more ]
0002808
Myopathic facies 0002058
Neck muscle weakness
Floppy neck
0000467
Nocturnal hypoventilation 0002877
Peripheral neuropathy 0009830
Progressive
Worsens with time
0003676
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ]
0002098
Scoliosis 0002650
Sensorineural hearing impairment 0000407
Stridor 0010307
Tongue atrophy
Wasting of the tongue
0012473
Tongue fasciculations
Tongue twitching
Twitching of the tongue
[ more ]
0001308
Vocal cord paralysis
Inability to move vocal cords
0001605
Weak voice
Soft voice
0001621
Showing of 58 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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Riboflavin transporter deficiency is caused by mutations in the SLC52A2 gene or the SLC52A3 gene. Some authors have proposed a classification system of types of riboflavin transporter deficiency depending on the underlying genetic cause, with those having a mutation in the SLC52A2 gene classified as type 2 and those having a mutation in the SLC52A3 gene classified as type 3.[1]
Last updated: 6/9/2016

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


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Treatment with riboflavin therapy (high-dose supplementation of riboflavin) has been used since 2010 and appears to be effective and possibly life-saving. Therefore, treatment should begin as soon as a riboflavin transporter deficiency is suspected, and should continue unless the diagnosis is ruled out with genetic testing.[1] Improvement of symptoms may occur within days to months after starting treatment, and starting treatment early appears to be associated with better and more rapid improvement.[4]

More detailed information about this treatment and supportive care is available here on the GeneReviews website.
Last updated: 3/8/2017

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis include neuromuscular diseases like some forms of congenital or mitochondrial myopathy and rapidly progressive neuropathies.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Riboflavin transporter deficiency. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Riboflavin transporter deficiency:
    Cure RTD Foundation
     

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Cure RTD Foundation
    6228 Northaven Rd.
    Dallas, TX 75230
    Telephone: 403-244-4549
    E-mail: info@cureRTD.org
    Website: http://curertd.org/
  • RTD International
    E-mail: lballew@thisbeandnoah.org
    Website: https://www.rtdinternational.org/
  • Thisbe and Noah Scott Foundation
    P.O. Box 50332
    Nashville, TN 37205-0332
    Telephone: 615-521-6195
    E-mail: http://www.thisbeandnoah.org/contact/
    Website: http://www.thisbeandnoah.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Riboflavin transporter deficiency. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Riboflavin transporter deficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What causes riboflavin transporter deficiency? Is genetic testing for this available? Who can I talk to if a diagnosis of riboflavin transporter deficiency is suspected in a friend or family member? How can I learn more about research? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Manole A and H Houlden. Riboflavin Transporter Deficiency Neuronopathy. GeneReviews. 06/11/2015; http://www.ncbi.nlm.nih.gov/books/NBK299312/.
  2. About BVVL. BVVL International. 2016; http://www.bvvlinternational.org/about-bvvl.html.
  3. Riboflavin transporter deficiency neuronopathy. Genetics Home Reference. January, 2016; https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy.
  4. Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis. July, 2016; 39(4):559-564. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920840/.
  5. Deficiencia del transportador de riboflavina. Orphanet. May 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=97229.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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