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.
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Sub-types of Amino acid metabolism disease
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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
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Creatine biosynthetic process disease 0 trials · 1 incl. sub-types
2 sub-types
- AGAT deficiency 1 trial
- Guanidinoacetate methyltransferase deficiency 1 trial
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Glycine metabolism disease 0 trials
1 sub-type
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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
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One-Shot gene therapy could free PKU patients from strict diet
Disease control Not yet recruitingThis early-phase trial tests a single injection of a gene therapy called GS1168 in 9 adults with PKU whose condition is not well controlled by diet or other treatments. The therapy uses a harmless virus to deliver a working copy of the PAH gene, which is faulty in PKU, to help th…
Early phase 1 • Sponsor: Gritgen Therapeutics Co., Ltd. • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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Can a new injection tame the toxic ammonia of urea cycle disorders?
Disease control Not yet recruitingThis early-stage trial is evaluating an experimental drug called KRRO-121, given as a shot under the skin, to see if it is safe and tolerable. The study first tests KRRO-121 in healthy adults, then in people with urea cycle disorders—a group of inherited conditions that impair th…
Phase 1/2 • Sponsor: Korro Bio, Inc. • Aim: Disease control
Last updated Aug 22, 2026 00:00 UTC
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Tiny tablets could make PKU management easier for patients
Disease control Not yet recruitingThis study tests a new microtablet protein substitute for people with phenylketonuria (PKU), a condition requiring a strict low-protein diet. The microtablets combine protein with vitamins and minerals, aiming to be easier to take than current liquid or powder options. About 20 a…
Sponsor: Nutricia UK Ltd • Aim: Disease control
Last updated Jun 28, 2026 00:00 UTC
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Promising drug aims to slow kidney damage in rare lowe syndrome
Disease control Not yet recruitingThis early study tests a drug called piclidenoson in 5 adult men with Lowe syndrome, a rare genetic disorder that harms the kidneys. The goal is to see if the drug can improve how the kidneys reabsorb important small proteins over 6 months. Researchers will also check safety and …
Phase 2 • Sponsor: Can-Fite BioPharma • Aim: Disease control
Last updated Jun 27, 2026 09:05 UTC
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Could a vitamin B12 shot help kids with MMA? new trial underway
Disease control Not yet recruitingThis phase III trial tests a vitamin B12 injection (hydroxocobalamin chloride) in 20 children aged 6 months to 18 years with a specific type of methylmalonic acidemia (cobalamin C deficiency). The goal is to see if the injection can normalize levels of certain acids in the blood …
Phase 3 • Sponsor: CSPC ZhongQi Pharmaceutical Technology Co., Ltd. • Aim: Disease control
Last updated Jun 26, 2026 14:49 UTC
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Can tiny tablets replace protein powder for kids with PKU?
Symptom relief Not yet recruitingThis trial tests whether XPhe Piccos, a slow-release protein substitute in tiny tablets without phenylalanine, is acceptable and well-tolerated in children aged 3 and older with phenylketonuria (PKU) or hyperphenylalaninemia. Participants replace some or all of their usual protei…
Sponsor: metaX Institut fuer Diatetik GmbH • Aim: Symptom relief
Last updated Sep 05, 2026 00:00 UTC
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Robotic surgery breakthrough aims to slash chest pain after esophageal cancer surgery
Symptom relief Not yet recruitingThis early-stage trial tests a new robotic surgical method for esophageal cancer that avoids cuts between the ribs, which may cause less chest pain and faster recovery. About 31 adults with stage I to III esophageal cancer will be randomly assigned to either the new approach or s…
Phase 1 • Sponsor: Centre hospitalier de l'Université de Montréal (CHUM) • Aim: Symptom relief
Last updated Jun 27, 2026 11:02 UTC
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Can mindfulness ease trauma for Justice-Involved black teens?
Knowledge-focused Not yet recruitingThis study looks at whether mindfulness-based stress reduction can help Black teenage girls who have been involved with the justice system and their parents or caregivers. About 90 participants will report on stress, PTSD symptoms, and other outcomes before and after the program.…
Sponsor: University of Michigan • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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Could a breath test replace blood draws for metabolic disease monitoring?
Knowledge-focused Not yet recruitingThis study measures specific substances (metabolites) in the breath and blood of people with inherited metabolic disorders, those on a special ketogenic diet for epilepsy, and healthy volunteers. The goal is to see if a simple breath test can reliably track these metabolites, pot…
Sponsor: University Children's Hospital, Zurich • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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PKU mystery: why do some patients thrive despite high phe levels?
Knowledge-focused Not yet recruitingThis study looks at how blood phenylalanine (Phe) levels affect thinking, emotions, and daily functioning in adults with PKU. Researchers will ask 30 adults with PKU and their relatives to complete questionnaires. The goal is to understand why some people with high Phe levels hav…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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New DNA reader could crack unsolved rare disease cases
Knowledge-focused Not yet recruitingThis study tests a new DNA sequencing method that reads long stretches of DNA to find hidden genetic changes causing rare diseases like albinism and intellectual disability. Researchers will analyze stored blood or DNA from 150 patients who haven't gotten a clear diagnosis yet. T…
Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Diabetic eye patients at risk for extra retinal scarring?
Knowledge-focused Not yet recruitingThis study will look at 225 adults with diabetic retinopathy to find out how many also develop an epiretinal membrane — a thin, scar-like layer on the retina that can blur vision. Researchers will use eye scans to detect the membrane and check for related factors like age, diabet…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC