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Disease Profile

Biotin-thiamine-responsive basal ganglia disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

G93.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Biotin-responsive basal ganglia disease; BBGD

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner.[1][2] As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.[2][3]

Symptoms

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.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Global developmental delay
0001263
1%-4% of people have these symptoms
Psychomotor retardation
0025356
Percent of people who have these symptoms is not available through HPO
Abnormality of the basal ganglia
0002134
Autosomal recessive inheritance
0000007
Babinski sign
0003487
Coma
0001259
Confusion
Disorientation
Easily confused
Mental disorientation

[ more ]

0001289
Craniofacial dystonia
Abnormal craniofacial muscle tone
0012179
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Dystonia
0001332
Encephalopathy
0001298
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Fever
0001945
Gait ataxia
Inability to coordinate movements when walking
0002066
Hypertonia
0001276
Inability to walk
0002540
Irritability
Irritable
0000737
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Morphological abnormality of the pyramidal tract
0002062
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Mutism
Inability to speak
Muteness

[ more ]

0002300
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Paraparesis
Partial paralysis of legs
0002385
Ptosis
Drooping upper eyelid
0000508
Rigidity
Muscle rigidity
0002063
Seizure
0001250

Diagnosis

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.

    Organizations

    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

      Learn more

      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 Biotin-thiamine-responsive basal ganglia disease. 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 Biotin-thiamine-responsive basal ganglia disease. Click on the link to view a sample search on this topic.

          References

          1. Biotin-thiamine-responsive basal ganglia disease. Genetics Home Reference. January 2014; https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease.
          2. Brahim Tabarki, MD, Amal Al-Hashem, MD, and Majid Alfadhel, MD, MHSc, FCCMG. Biotin-Thiamine-Responsive Basal Ganglia Disease. GeneReviews. November 2013; https://www.ncbi.nlm.nih.gov/books/NBK169615/#bgd-biotin.Clinical_Description.
          3. Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. June 2013; 8:83.