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Biotin-responsive basal ganglia disease

Synonyms
Biotin-thiamine-responsive basal ganglia disease; THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- AND THIAMINE-RESPONSIVE TYPE); Thiamine Transporter-2 Deficiency; Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); Thiamine metabolism dysfunction syndrome type 2; thiamine-responsive encephalopathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Biotin-Thiamine-Responsive Basal Ganglia Disease
Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Brahim Tabarki
Amal Al-Hashem
Majid Alfadhel
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Available tests

72 tests are in the database for this condition.

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Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBGD, THMD2, THTR2, hTHTR2, thTr-2, SLC19A3
    Summary: solute carrier family 19 member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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