Amino Acid Metabolism, Inborn Errors
Recent clinical, regulatory, research and industry developments relating to this disease.
Gene therapy for neurotransmitter-related disorders.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes5
- Amino Acid Metabolism, Inborn Errors2
- Genetic Therapy1
- Parkinson Disease1
- Succinate-Semialdehyde Dehydrogenase1
- Synaptic Transmission1
Leading journals1
- Journal of inherited metabolic disease2
Leading researchers8
- Bertoldi M1
- Chu WS1
- Gao G1
- Kurian MA1
- Latzer IT1
- Lee HHC1
- Ng J1
- Pearl PL1
Affiliations (unnormalised)6
- Division of Epilepsy & Clinical Neurophysiology1
- EGA Institute for Women's Health1
- F.M. Kirby Neurobiology Center1
- Genetic Therapy Accelerator Centre1
- Great Ormond Street Hospital for Children1
- Pediatric Neurology and Child Development Institute1
Reference
Authoritative identity, definition & identifiers.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.