ORPHA:289307
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Also known as: Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
13
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
97
Distinct authors in sample
Gene link
ALDH6A1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical , typically characterized by mild to severe global , elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial , liver failure, and central nervous system abnormalities on MRI have also been reported.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013579
- MeSH:C566402
- OMIM:614105
- UMLS:C3279840
Additional Mondo synonyms (4)
developmental delay due to ALDH6A1 deficiency · developmental delay due to MMSDH deficiency · developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency · methylmalonate semialdehyde dehydrogenase deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — ALDH6A1
- LiteraturePresent
13 matched papers (8 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ALDH6A1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
13
13 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
97
Distinct author names in 13 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Kanungo S2 papers · 2018
Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA.
Papers in Europe PMC - 02Morton J2 papers · 2018
Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA.
Papers in Europe PMC - 03Alodaib A1 paper · 2020
Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Papers in Europe PMC - 04Ansó S1 paper · 2019
Department of Pediatrics, Cruces Universitary Hospital, Barakaldo, Spain.
Papers in Europe PMC - 05Astigarraga I1 paper · 2019
Department of Pediatrics, Cruces Universitary Hospital, Barakaldo, Spain.
Papers in Europe PMC - 06Atherton AM1 paper · 2012Papers in Europe PMC
- 07Auburger G1 paper · 2022
Experimental Neurology, Medical Faculty, Goethe University, 60590 Frankfurt am Main, Germany.
Papers in Europe PMC - 08Ayucar MMM1 paper · 2019
Department of Pediatrics, Txagorritxu Hospital, Vitoria-Gasteiz, Spain.
Papers in Europe PMC - 09Basu S1 paper · 2020
Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Papers in Europe PMC - 10Bruzzone C1 paper · 2019
Protein Stability and Inherited Disease Laboratory, CIC bioGUNE, Bizkaia Technology Park, Bld. 800, 48160, Derio, Bizkaia, Spain.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" OR "Developmental delay due to ALDH6A1 deficiency" OR "Developmental delay due to MMSDH deficiency" OR "methylmalonate semialdehyde dehydrogenase deficiency"
MeSH descriptor terms unioned into the query: Methylmalonate Semialdehyde Dehydrogenase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" OR "Developmental delay due to ALDH6A1 deficiency" OR "Developmental delay due to MMSDH deficiency" OR "methylmalonate semialdehyde dehydrogenase deficiency" OR "ALDH6A1"
Recall-expansion terms: ALDH6A1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:11:25.270Z