Amino acid metabolism disease
MONDO:0037871A disease that has its basis in the disruption of cellular amino acid metabolic process.
Also known as: amino acid disorder, amino acid metabolism disorder, amino acidopathy, cellular amino acid metabolic process disease, disorder of amino acid metabolism, disorder of cellular amino acid metabolic process
160 clinical trials for this condition and its sub-types, 2 tagged with Amino acid metabolism disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
Sub-types of Amino acid metabolism disease
-
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
-
Creatine biosynthetic process disease 0 trials · 1 incl. sub-types
2 sub-types
- AGAT deficiency 1 trial
- Guanidinoacetate methyltransferase deficiency 1 trial
-
Glycine metabolism disease 0 trials
1 sub-type
-
Valine metabolism disease 0 trials
2 sub-types
- 3-hydroxyisobutyric aciduria 0 trials
- 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
Most studied deeper sub-types
-
Promising seizure drug study halted early
Disease control Stopped earlyThis study looked at the long-term safety of the drug NBI-921352 for people with a rare genetic seizure disorder called SCN8A-DEE. It was an extension of an earlier study, and participants took the drug alongside their usual seizure medications. The study was stopped early and on…
Phase 2 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
-
MRNA therapy trial for rare acidemia halted early
Disease control Stopped earlyThis study tested an mRNA therapy called mRNA-3705 in 18 people with a rare genetic condition called methylmalonic acidemia, which causes harmful acid buildup. The therapy aimed to help the body produce a missing enzyme to lower acid levels. The trial was terminated early, so fin…
Phase 1/2 • Sponsor: ModernaTX, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
-
New PKU formula shows promise in managing blood levels
Disease control Stopped earlyThis study tested a new amino acid formula called PKU GOLIKE in people aged 16 and older with phenylketonuria (PKU). The goal was to see if it could better control daily swings in blood phenylalanine levels compared to standard treatment. The study was stopped early, so results a…
Sponsor: APR Applied Pharma Research s.a. • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
-
Promising epilepsy drug trial halted early – what we know
Disease control Stopped earlyThis study tested an experimental drug called NBI-921352 in people aged 2 to 21 with a rare, severe form of epilepsy caused by a change in the SCN8A gene. The goal was to see if adding this drug to their current seizure medicines could reduce how often they had seizures. The tria…
Phase 2 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
-
Experimental therapy for rare metabolic disease shows early promise
Disease control Stopped earlyThis study tested a new medicine called ARCT-810 in 8 people aged 12 to 65 with ornithine transcarbamylase (OTC) deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The main goal was to check the drug's safety and how the body processes it. The trial was st…
Phase 2 • Sponsor: Arcturus Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
-
PKU diet in childhood may shape adult IQ, study finds
Knowledge-focused Stopped earlyThis study looks at adults with phenylketonuria (PKU) who were diagnosed as newborns and treated with a special diet. Researchers want to see if how long and how strictly they followed the diet as children affects their intelligence (IQ) as adults. The goal is to use this informa…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC