Disorder of organic acid metabolism

Part of

Sub-types of Disorder of organic acid metabolism

• Disorder of phenylalanine metabolism 0 trials · 60 incl. sub-types
  2 sub-types

  • Phenylketonuria 57 trials · 60 incl. sub-types Sub-types →
  • Tetrahydrobiopterin metabolic process disease 0 trials · 1 incl. sub-types Sub-types →
• 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
• Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types
  10 sub-types

  • Acyl-CoA dehydrogenase deficiency 0 trials · 12 incl. sub-types Sub-types →
  • Carnitine-acylcarnitine translocase deficiency 3 trials
  • 3-hydroxy-3-methylglutaric aciduria 1 trial
  • 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
  • Systemic primary carnitine deficiency disease 1 trial
  • Very long chain acyl-CoA dehydrogenase deficiency 1 trial
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 trials
  • Acyl-CoA dehydrogenase 9 deficiency 0 trials
  • Long chain acyl-CoA dehydrogenase deficiency 0 trials
• Scurvy 13 trials
• 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
• Disorder of tyrosine metabolism 0 trials · 8 incl. sub-types
  5 sub-types

  • Tyrosinemia 6 trials Sub-types →
  • Alkaptonuria 2 trials
  • TH-deficient dopa-responsive dystonia 1 trial
  • Oculocutaneous albinism type 1 0 trials · 1 incl. sub-types Sub-types →
  • Hawkinsinuria 0 trials
• Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types
  3 sub-types

  • Creatine transporter deficiency 6 trials
  • AGAT deficiency 1 trial
  • Guanidinoacetate methyltransferase deficiency 1 trial
• Inborn disorder of branched-chain amino acid metabolism 0 trials · 4 incl. sub-types
  7 sub-types

  • Maple syrup urine disease 2 trials · 4 incl. sub-types Sub-types →
  • 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
• Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types
  2 sub-types

  • Ornithine aminotransferase deficiency 4 trials
  • P5CS deficiency 0 trials Sub-types →
• Biotin metabolic disease 0 trials · 3 incl. sub-types
  2 sub-types

  • Inborn error of biotin metabolism 0 trials · 3 incl. sub-types Sub-types →
  • Nutritional biotin deficiency 0 trials
• Creatine biosynthetic process disease 0 trials · 1 incl. sub-types
  2 sub-types

  • AGAT deficiency 1 trial
  • Guanidinoacetate methyltransferase deficiency 1 trial
• Gamma-amino butyric acid metabolism disorder 0 trials · 1 incl. sub-types
  3 sub-types

  • Succinic semialdehyde dehydrogenase deficiency 1 trial
  • GABA aminotransaminase deficiency 0 trials
  • Homocarnosinosis 0 trials Sub-types →
• Inborn serine deficiency 0 trials · 1 incl. sub-types
  1 sub-type

  • Neurometabolic disorder due to serine deficiency 0 trials · 1 incl. sub-types Sub-types →
• Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
  6 sub-types

  • Pyruvate dehydrogenase E3 deficiency 1 trial
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
  • Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
  • Lipoic acid synthetase deficiency 0 trials
  • Lipoyl transferase 1 deficiency 0 trials
  • Spasticity-ataxia-gait anomalies syndrome 0 trials
• Glycine metabolism disease 0 trials
  1 sub-type

  • Inborn disorder of glycine and serine metabolism 0 trials
• Inborn disorder of histidine metabolism 0 trials
  2 sub-types

  • Histidinemia 0 trials Sub-types →
  • Urocanic aciduria 0 trials
• Inborn disorder of proline metabolism 0 trials
  3 sub-types

  • P5CS deficiency 0 trials Sub-types →
  • Autosomal recessive cutis laxa type 2 0 trials Sub-types →
  • Hyperprolinemia 0 trials Sub-types →
• Inborn disorder of tryptophan metabolism 0 trials
  3 sub-types

  • Encephalopathy due to hydroxykynureninuria 0 trials
  • Familial hypertryptophanemia 0 trials
  • Inborn disorder of lysine, hydroxylysine, and tryptophan metabolism 0 trials
• Valine metabolism disease 0 trials
  2 sub-types

  • 3-hydroxyisobutyric aciduria 0 trials
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials