Inborn disorder of branched-chain amino acid metabolism

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Sub-types of Inborn disorder of branched-chain amino acid metabolism

• Maple syrup urine disease 2 trials · 4 incl. sub-types
  9 sub-types

  • Maple syrup urine disease type 1A 1 trial
  • Maple syrup urine disease type 1B 1 trial
  • Maple syrup urine disease type 2 1 trial
  • Pyruvate dehydrogenase E3 deficiency 1 trial
  • Classic maple syrup urine disease 0 trials
  • Intermediate maple syrup urine disease 0 trials
  • Intermittent maple syrup urine disease 0 trials
  • Maple syrup urine disease, mild variant 0 trials
  • Thiamine-responsive maple syrup urine disease 0 trials
• Holocarboxylase synthetase deficiency 1 trial
• 3-hydroxyisobutyric aciduria 0 trials
• 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
• Branched-chain keto acid dehydrogenase kinase deficiency 0 trials
• Hypervalinemia and hyperleucine-isoleucinemia 0 trials
• Methylmalonate semialdehyde dehydrogenase deficiency 0 trials