5.01.b
Disorders of thiamine metabolism
- Thiamine transporter 1 deficiency (Thiamine-responsive megaloblastic anemia; Rogers syndrome; thiamine metabolism dysfunction syndrome type 1)
- Thiamine transporter 2 deficiency (Biotin-thiamine-responsive basal ganglia disease; thiamine metabolism dysfunction syndrome type 2)
- Thiamine pyrophosphokinase deficiency (Thiamine metabolism dysfunction syndrome type 5)
- Mitochondrial thiamine pyrophosphate transporter deficiency (Amish lethal microcephaly, thiamine metabolism dysfunction syndrome type 3, severe; bilateral striatal necrosis and progressive polyneuropathy, thiamine metabolism dysfunction syndrome type 4, milder)
Subnetworks
PM-MD
Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism
