Biotin or thiamine responsive basal ganglia disease (BTBGD) is a disorder of thiamine metabolism which primarily presents in pediatric patients.

Synonyms: Thiamine Metabolism Dysfunction 2, Biotin or Thiamine Responsive Encephalopathy Type 2, THMD2


Chromosome: 2q36.3

Gene: SLC19A3

Protein: thiamine transporter 2


Inheritance: autosomal recessive


Patients present with neurologic symptoms that respond to oral biotin and/or thiamine.



(1) early infantile

(2) classic childhood

(3) adult-onset



(1) infantile spasms

(2) poor feeding

(3) vomiting

(4) acute encephalopathy

(5) severe lactic acidosis


Classic childhood:

(1) recurrent subacute encephalopathy with altered level of consciousness

(2) dystonia

(3) cogwheel rigidity

(4) seizures

(5) episodes triggered by febrile illness, stress or trauma

(6) bilateral lesions of the basal ganglia


Early adult-onset encephalopathy (Wernicke-like)

(1) status epilepticus

(2) ataxia

(3) nystagmus

(4) diplopia

(5) ophthalmoplegia

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