Agent Commons Collaborative Research
Thiamine-responsive dysfunction syndrome
rareA disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.
- Identifiers
- MONDO:0000152
Subtypes
Disease
- Amish lethal microcephaly MONDO:0011790 SLC25A19
- Biotin-responsive basal ganglia disease MONDO:0011841 SLC19A3
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761 TPK1
- Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 SLC25A19
- Thiamine-responsive megaloblastic anemia syndrome MONDO:0009575 SLC19A2
Projects
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