Preferred Label : Basal ganglia disease, biotin-thiamine responsive;
Symbol : BTBGD;
CISMeF acronym : BTBGD; THMD2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Encephalopathy, thiamine-responsive; Basal ganglia disease, biotin-responsive; Thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type); BBGD; THMD2;
Description : Thiamine metabolism dysfunction syndrome-2 (THMD2) is an autosomal recessive metabolic
disorder characterized by episodic encephalopathy, often triggered by febrile illness,
presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes
coma and death. Administration of high doses of biotin, and sometimes thiamine, during
these crises results in partial or complete improvement within days. If untreated,
encephalopathies can result in permanent dystonia. Brain imaging may show characteristic
bilateral lesions of the basal ganglia. It is not known why biotin administration
results in clinical improvement, as the molecular basis of the disorder is mutation
in a gene encoding a thiamine transporter. However, biotin may increase the gene expression
of SLC19A3 (summary by Debs et al., 2010). For a discussion of genetic heterogeneity
of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 19, folate transporter, member 3 gene
(SLC19A3, 606152.0001);
Prefixed ID : #607483;
Origin ID : 607483;
UMLS CUI : C1843807;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
