Disorder of vitamin and non-protein cofactor absorption and transport

Part of

Sub-types of Disorder of vitamin and non-protein cofactor absorption and transport

• Disorder of thiamine metabolism and transport 0 trials · 7 incl. sub-types
  2 sub-types

  • Thiamine-responsive dysfunction syndrome 0 trials · 7 incl. sub-types Sub-types →
  • Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 0 trials
• Inborn disorder of cobalamin metabolism and transport 1 trial · 3 incl. sub-types
  9 sub-types

  • Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
  • Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
  • Methylmalonic aciduria and/or homocystinuria, cblD type 0 trials · 2 incl. sub-types Sub-types →
  • Vitamin B12-responsive methylmalonic acidemia 0 trials · 2 incl. sub-types Sub-types →
  • Hereditary intrinsic factor deficiency 1 trial Sub-types →
  • Transcobalamin II deficiency 1 trial
  • Imerslund-Grasbeck syndrome 0 trials Sub-types →
  • Methylmalonic acidemia due to transcobalamin receptor defect 0 trials
  • Transcobalamin I deficiency 0 trials
• Disorder of folate metabolism and transport 0 trials · 2 incl. sub-types
  7 sub-types

  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 trial
  • Neurodegenerative syndrome due to cerebral folate transport deficiency 1 trial
  • Constitutional megaloblastic anemia with severe neurologic disease 0 trials
  • Formiminoglutamic aciduria 0 trials
  • Hereditary folate malabsorption 0 trials
  • Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency 0 trials Sub-types →
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 trials
• Hereditary hypercarotenemia and vitamin A deficiency 0 trials
  1 sub-type

  • Hypercarotenemia and vitamin A deficiency, autosomal recessive 0 trials