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 2 strategies returned hits (phrase).
Publications
1,045
Trials
0
Interventional, condition-specific
Researchers
97
Distinct authors in sample
Gene link
ALDH6A1
Strong
Readiness
3/6
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.”
3/6 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
1,045 matched papers (771 in last 10 years) Source
- Phenotype characterisedPresent
38 HPO annotations (e.g. Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts; Cataract; Broad hallux) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
38
Associated phenotypes · MONDO:0013579
- Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts
- Cataract
- Broad hallux
- Periventricular heterotopia
- Elevated urinary 3-hydroxybutyric acid
Showing 5 of 38 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,045
1,045 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,045 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
771 in the last 10 years · low confidence
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency — check Associations / patient organisations on that page.
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") OR (MESH:"Methylmalonate Semialdehyde Dehydrogenase Deficiency") OR ("ALDH6A1" OR "ALDH6A1 syndrome" OR "ALDH6A1-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (1045) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:11:25.270Z