5.1.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 1

PM-MD

Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism

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