Inborn disorder of amino acid metabolism

Part of

Sub-types of Inborn disorder of amino acid metabolism

• Inborn disorder of phenylalanine and tyrosine metabolism 0 trials · 65 incl. sub-types
  2 sub-types

  • Disorder of phenylalanine metabolism 0 trials · 60 incl. sub-types Sub-types →
  • Disorder of tyrosine metabolism 0 trials · 8 incl. sub-types Sub-types →
• Urea cycle disorder 14 trials · 30 incl. sub-types
  3 sub-types

  • Urea cycle disorder or inherited hyperammonemia 0 trials · 24 incl. sub-types Sub-types →
  • Citrullinemia 2 trials · 6 incl. sub-types Sub-types →
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency 1 trial
• Inborn organic aciduria 5 trials · 29 incl. sub-types
  7 sub-types

  • Classic organic aciduria 0 trials · 20 incl. sub-types Sub-types →
  • Methylmalonic acidemia 7 trials · 8 incl. sub-types Sub-types →
  • Glutaryl-CoA dehydrogenase deficiency 4 trials
  • Maple syrup urine disease 2 trials · 4 incl. sub-types Sub-types →
  • Glutaric acidemia type 3 0 trials
  • Malonic aciduria 0 trials
  • Methylmalonate semialdehyde dehydrogenase deficiency 0 trials
• Inborn disorder of amino acid transport 1 trial · 16 incl. sub-types
  19 sub-types

  • Cystinuria 7 trials Sub-types →
  • Undetermined early-onset epileptic encephalopathy 1 trial · 6 incl. sub-types Sub-types →
  • Oculocerebrorenal syndrome 3 trials
  • Hartnup disease 0 trials
  • Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 0 trials Sub-types →
  • Blue diaper syndrome 0 trials
  • Dicarboxylic aminoaciduria 0 trials
  • Disorder of neutral amino acid transport 0 trials
  • Episodic ataxia type 6 0 trials
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
  • Histidinuria due to a renal tubular defect 0 trials
  • Hyperdibasic aminoaciduria type 1 0 trials
  • Hypotonia-cystinuria syndrome 0 trials Sub-types →
  • Iminoglycinuria 0 trials
  • Juvenile nephropathic cystinosis 0 trials
  • Lysinuric protein intolerance 0 trials
  • Nephropathic infantile cystinosis 0 trials
  • Ocular cystinosis 0 trials
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 trials
• Homocystinuria 7 trials · 11 incl. sub-types
  5 sub-types

  • Classic homocystinuria 4 trials
  • Hyperhomocysteinemia 3 trials
  • Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
  • Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 trial
• Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types
  4 sub-types

  • Dihydropteridine reductase deficiency 1 trial
  • BH4-deficient hyperphenylalaninemia A 0 trials
  • GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 trials
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 0 trials
• Adenine phosphoribosyltransferase deficiency 6 trials
• Albinism 6 trials
  2 sub-types

  • X-linked recessive ocular albinism 0 trials
  • Albinism-hearing loss syndrome 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 →
• Adenylosuccinate lyase deficiency 2 trials
• Systemic primary carnitine deficiency disease 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 →
• 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
  3 sub-types

  • Adenosine kinase deficiency 0 trials
  • Glycine N-methyltransferase deficiency 0 trials
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0 trials
• Glycine encephalopathy 0 trials
  5 sub-types

  • Atypical glycine encephalopathy 0 trials
  • Glycine encephalopathy 1 0 trials
  • Glycine encephalopathy 2 0 trials
  • Infantile glycine encephalopathy 0 trials
  • Neonatal glycine encephalopathy 0 trials
• Hyperglycinemia, transient neonatal 0 trials
• Hyperlysinemia 0 trials
  1 sub-type

  • Hyperlysinemia due to defect in lysine transport into mitochondria 0 trials
• 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
  2 sub-types

  • Histidinemia 0 trials Sub-types →
  • Urocanic aciduria 0 trials
• Inborn disorder of ornithine, proline and hydroxyproline metabolism 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 the metabolism of sulfur-containing amino acids and hydrogen sulfide 0 trials
• 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
• Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia 0 trials