Inborn disorder of amino acid and other organic acid metabolism

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Sub-types of Inborn disorder of amino acid and other organic acid metabolism

• Inborn disorder of amino acid metabolism 6 trials · 159 incl. sub-types
  33 sub-types

  • Inborn disorder of phenylalanine and tyrosine metabolism 0 trials · 65 incl. sub-types Sub-types →
  • Urea cycle disorder 14 trials · 30 incl. sub-types Sub-types →
  • Inborn organic aciduria 5 trials · 29 incl. sub-types Sub-types →
  • Inborn disorder of amino acid transport 1 trial · 16 incl. sub-types Sub-types →
  • Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
  • Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types Sub-types →
  • Adenine phosphoribosyltransferase deficiency 6 trials
  • Albinism 6 trials Sub-types →
  • Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types Sub-types →
  • Inborn disorder of branched-chain amino acid metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Adenylosuccinate lyase deficiency 2 trials
  • Gamma-amino butyric acid metabolism disorder 0 trials · 1 incl. sub-types Sub-types →
  • Inborn serine deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Systemic primary carnitine deficiency disease 1 trial
  • 2-methylacetoacetyl CoA thiolase deficiency 0 trials
  • Brunner syndrome 0 trials
  • Aminoacylase 1 deficiency 0 trials
  • Arakawa syndrome 2 0 trials
  • Cystathioninuria 0 trials
  • Disorder of methionine catabolism 0 trials Sub-types →
  • Glycine encephalopathy 0 trials Sub-types →
  • Hyperglycinemia, transient neonatal 0 trials
  • Hyperlysinemia 0 trials Sub-types →
  • Hyperphenylalaninemia due to DNAJC12 deficiency 0 trials
  • Inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism 0 trials
  • Inborn disorder of glycine and serine metabolism 0 trials
  • Inborn disorder of histidine metabolism 0 trials Sub-types →
  • Inborn disorder of ornithine, proline and hydroxyproline metabolism 0 trials
  • Inborn disorder of proline metabolism 0 trials Sub-types →
  • Inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide 0 trials
  • Inborn disorder of tryptophan metabolism 0 trials Sub-types →
  • Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia 0 trials
• Pyruvate metabolism disorder 0 trials · 31 incl. sub-types
  4 sub-types

  • Disorder of glycolysis 1 trial · 27 incl. sub-types Sub-types →
  • Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
  • Mitochondrial pyruvate carrier deficiency 0 trials
  • Pyruvate kinase hyperactivity 0 trials
• Inherited fatty acid metabolism disorder 7 trials · 21 incl. sub-types
  3 sub-types

  • Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types Sub-types →
  • Carnitine palmitoyl transferase 1A deficiency 1 trial
  • Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
• Disorder of melanin metabolism 0 trials · 15 incl. sub-types
  3 sub-types

  • Syndromic oculocutaneous albinism 0 trials · 12 incl. sub-types Sub-types →
  • Oculocutaneous albinism 4 trials Sub-types →
  • Ocular albinism 1 trial · 2 incl. sub-types Sub-types →
• Inborn disorder of bile acid synthesis 2 trials · 12 incl. sub-types
  5 sub-types

  • Cerebrotendinous xanthomatosis 6 trials
  • Idiopathic malabsorption due to bile acid synthesis defects 4 trials
  • Bile acid CoA ligase deficiency and defective amidation 0 trials
  • Hypercholanemia, familial 0 trials Sub-types →
  • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 0 trials
• Inborn disorder of methionine cycle and sulfur amino acid metabolism 0 trials · 11 incl. sub-types
  6 sub-types

  • Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
  • Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Autosomal recessive extra-oral halitosis 0 trials
  • Cystathioninuria 0 trials
  • Disorder of methionine catabolism 0 trials Sub-types →
  • Methionine adenosyltransferase deficiency 0 trials
• Inborn disorder of ornithine or proline metabolism 0 trials · 4 incl. sub-types
  2 sub-types

  • Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Inborn disorder of proline metabolism 0 trials Sub-types →
• Inborn error of biotin metabolism 0 trials · 3 incl. sub-types
  1 sub-type

  • Multiple carboxylase deficiency 0 trials · 3 incl. sub-types Sub-types →
• Inborn disorder of serine family metabolism 0 trials · 1 incl. sub-types
  3 sub-types

  • Neurometabolic disorder due to serine deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Glycine encephalopathy 0 trials Sub-types →
  • Inborn disorder of glycine and serine metabolism 0 trials
• Inborn disorder of the gamma-glutamyl cycle 0 trials · 1 incl. sub-types
  1 sub-type

  • Inherited glutathione metabolism disease 0 trials · 1 incl. sub-types Sub-types →
• Disorder of beta and omega amino acid metabolism 0 trials
  1 sub-type

  • GABA aminotransaminase deficiency 0 trials
• Disorder of glutamine metabolism 0 trials
  2 sub-types

  • Congenital brain dysgenesis due to glutamine synthetase deficiency 0 trials
  • Glutaminase deficiency 0 trials Sub-types →
• Inborn disorder of lysine and hydroxylysine metabolism 0 trials
  5 sub-types

  • 2-aminoadipic 2-oxoadipic aciduria 0 trials
  • Hyperlysinemia 0 trials Sub-types →
  • Inborn disorder of lysine, hydroxylysine, and tryptophan metabolism 0 trials
  • Saccharopinuria 0 trials
  • Seizures-intellectual disability due to hydroxylysinuria syndrome 0 trials