Inborn disorder of amino acid metabolism
MONDO:0004736An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Also known as: inborn cellular amino acid metabolic process disorder, inborn error of amino acid metabolism, inborn error of cellular amino acid metabolic process, inherited amino acid metabolic disorder, rare inborn error of cellular amino acid metabolic process, amino acid metabolic disorder, amino acid metabolism, inborn errors, inborn amino acid metabolism disorder
159 clinical trials for this condition and its sub-types, 6 tagged with Inborn disorder of amino acid metabolism itself.
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Sub-types of Inborn disorder of amino acid metabolism
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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 →
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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
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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
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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
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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
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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types
4 sub-types
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Albinism 6 trials
2 sub-types
- X-linked recessive ocular albinism 0 trials
- Albinism-hearing loss syndrome 0 trials
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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
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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
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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 →
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Adenylosuccinate lyase deficiency 2 trials
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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 →
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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 →
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Brunner syndrome 0 trials
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Aminoacylase 1 deficiency 0 trials
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Arakawa syndrome 2 0 trials
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Cystathioninuria 0 trials
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Disorder of methionine catabolism 0 trials
3 sub-types
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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
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Hyperglycinemia, transient neonatal 0 trials
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Hyperlysinemia 0 trials
1 sub-type
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2 sub-types
- Histidinemia 0 trials Sub-types →
- Urocanic aciduria 0 trials
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3 sub-types
- P5CS deficiency 0 trials Sub-types →
- Autosomal recessive cutis laxa type 2 0 trials Sub-types →
- Hyperprolinemia 0 trials Sub-types →
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3 sub-types
Most studied deeper sub-types
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Gene therapy aims to tame rare metabolic disorder
Disease control OngoingThis Phase 3 trial tests a gene therapy called DTX301 for people with late-onset OTC deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The study involves 37 participants and compares the gene therapy to a placebo. The goal is to see if the treatment can h…
Phase 3 • Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Sep 11, 2026 00:00 UTC
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New gene therapy aims to tame PKU in first human test
Disease control OngoingThis early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…
Early phase 1 • Sponsor: The First Affiliated Hospital of Bengbu Medical University • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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New shot could free teens with PKU from strict diet
Disease control OngoingThis study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …
Phase 3 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Gene therapy for rare liver disease: Long-Term safety check
Disease control OngoingThis study follows 11 adults with late-onset OTC deficiency who received a single dose of gene therapy (DTX301) in an earlier trial. Researchers are checking long-term safety and how well the body makes urea and controls ammonia levels. The goal is to see if the treatment remains…
Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New drug pegtibatinase tested for rare metabolic disorder over two years
Disease control By invitation onlyThis study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…
Phase 3 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:38 UTC
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New shot targets rare liver disorder in early human tests
Disease control OngoingThis early-stage study tests a new drug called CMP-CPS-001 in healthy adults and women who carry a gene for OTC deficiency, a rare liver condition that can cause dangerous ammonia buildup. The main goal is to check the drug's safety and how the body processes it. Participants rec…
Phase 1 • Sponsor: CAMP4 Therapeutics Corporation • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Can a One-Day allergy fix keep PKU patients on their meds?
Disease control OngoingThis study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …
Phase 4 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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Gene therapy for rare metabolic disease passes early safety check
Disease control OngoingThis study follows 4 people with methylmalonic acidemia who previously received hLB-001 gene therapy. Researchers are checking for long-term side effects. The goal is to see if the treatment remains safe over time.
Sponsor: Alexion Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:02 UTC
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New hope for kids with hard-to-treat genetic seizures
Disease control OngoingThis study tests a new medicine called PRAX-562 in 77 children with rare genetic epilepsies (SCN2A or SCN8A). The goal is to see if it safely reduces motor seizures. The trial has two parts: a double-blind phase where some children get the drug and some get a placebo, followed by…
Phase 2/3 • Sponsor: Praxis Precision Medicines • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Cystinuria drug trial pulled before it even started
Disease control CancelledThis study was designed to test whether ADV7103, a combination of potassium citrate and potassium bicarbonate, could help people with cystinuria by making their urine less acidic. The goal was to see if it could raise urine pH to 7.0 or higher, which might reduce kidney stone for…
Phase 2/3 • Sponsor: Advicenne Pharma • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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One-Time gene therapy could free PKU patients from strict diet
Disease control OngoingThis study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…
Phase 1/2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief OngoingThis study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …
Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Sep 20, 2026 00:00 UTC
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Scientists track rare eye disease to uncover clues for future treatments
Knowledge-focused OngoingThis study follows 46 people with gyrate atrophy, a rare genetic condition that causes vision loss, over 4 years. Researchers measure ornithine levels in the blood and track changes in the retina using eye scans and photos. The goal is to learn how the disease progresses under st…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Aug 19, 2026 00:00 UTC
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Hidden weight problem: PKU adults face higher obesity risk, scientists investigate why
Knowledge-focused By invitation onlyThis observational study looks at how common overweight and obesity are in adults with phenylketonuria (PKU) and what factors might contribute. Researchers will collect clinical data, lab results, and questionnaire responses on diet, exercise, and mental health from 100 adults at…
Sponsor: Christel Tran • Aim: Knowledge-focused
Last updated Jul 16, 2026 00:00 UTC
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Blood tests could unlock secrets of rare metabolic disease
Knowledge-focused OngoingCitrin deficiency is a rare, underdiagnosed condition that affects the liver and metabolism. There is no cure, and patients manage symptoms with lifelong diet changes. This study analyzes blood samples from 100 patients to find biomarkers that could help track disease severity an…
Sponsor: Johannes Haeberle • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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New study aims to detect liver damage without needles
Knowledge-focused OngoingThis study looks at whether simple blood tests and special scans can detect liver scarring in people with urea cycle disorders. Researchers will enroll 62 participants across five U.S. centers. The goal is to find noninvasive ways to monitor liver health, avoiding the need for li…
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC
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Gene study aims to solve wolfram syndrome mystery
Knowledge-focused OngoingThis study looks at 45 people with certain changes in the WFS1 gene to figure out if they have a milder, dominant form of wolfram-like syndrome instead of the more severe recessive form. Researchers will use eye scans (OCT) to see if the gene changes are linked to specific eye pr…
Sponsor: Hôpital Necker-Enfants Malades • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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Could a simple creatine pill replace strict diets for a rare metabolic disorder?
Knowledge-focused OngoingThis early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Scientists probe liver fuel problems in rare citrin deficiency
Knowledge-focused OngoingThis study looks at how the liver processes energy and removes ammonia in people with citrin deficiency, a rare genetic disorder. Researchers will give participants special 'labeled' water, fructose, and ammonium chloride to track liver activity. By comparing 10 patients with 10 …
Sponsor: Johannes Haeberle • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
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HT-1 drug study in china withdrawn before starting
Knowledge-focused CancelledThis study was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…
Sponsor: Swedish Orphan Biovitrum • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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48-Hour test may predict who benefits from PKU drug
Knowledge-focused OngoingThis study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…
Phase 1 • Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC