ORPHA:17
Fatal infantile lactic acidosis with methylmalonic aciduria
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
21
37.1th percentile
Trials
0
Interventional, condition-specific
Researchers
156
Distinct authors in sample
Gene link
SUCLG1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Fatal lactic with methylmalonic aciduria is a rare neurometabolic disease characterized by onset of severe encephalomyopathy, lactic and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, , , feeding difficulties and dystonia. and multiple anomalies may be associated.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009504
- MeSH:C538134
- MeSH:C566885
- OMIM:245400
- UMLS:C3151476
Additional Mondo synonyms (4)
SUCLG1 mitochondrial DNA depletion syndrome · mitochondrial DNA depletion syndrome 9 · mitochondrial DNA depletion syndrome caused by mutation in SUCLG1 · mitochondrial DNA depletion syndrome type 9
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SUCLG1
- LiteraturePresent
21 matched papers (20 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 trialPartial
None under the specific name; 26 for broader category lactic acidosis
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 (SUCLG1).
GenCC classification: Definitive.
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?
21
21 papers have ever been published on this condition (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.
21 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).
20 in the last 10 years · high confidence · 37.1th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
156
Distinct author names in 21 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.
- 01Chen Y3 papers · 2022
Institute of Basic Medical College, Jining Medical University, Jining, China.
Papers in Europe PMC - 02Li H2 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 03Wang J2 papers · 2021
Institute of Basic Medical College, Jining Medical University, Jining, China.
Papers in Europe PMC - 04Zhang Y2 papers · 2021
Institute of Basic Medical College, Jining Medical University, Jining, China.
Papers in Europe PMC - 05Alcántara-Ortigoza MA1 paper · 2024
Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico.
Papers in Europe PMC - 06Aliu N1 paper · 2023
Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Papers in Europe PMC - 07Allen MA1 paper · 2018
BioFrontiers Institute, University of Colorado, Boulder, CO 80303, USA. mary.a.allen@colorado.edu.
Papers in Europe PMC - 08Amela I1 paper · 2018
Departament de Bioquímica i Biologia Molecular and Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, 08193, Cerdanyola del Vallès, Barcelona, Spain.
Papers in Europe PMC - 09Ashton F1 paper · 2017
Diagnostic Genetics LabPLUS, Auckland City Hospital, Auckland 1023, New Zealand.
Papers in Europe PMC - 10Bahramjahan S1 paper · 2021
Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran.
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). 26 trials are registered for lactic acidosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
26 interventional trials matched lactic acidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: lactic acidosis
26
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06451757·RECRUITING·KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
Conditions: Mitochondrial Diseases · Maternally Inherited Diabetes and Deafness (MIDD) · Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) · Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation·Matched via name phrase
- NCT06792500·NOT YET RECRUITING·A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
Conditions: MELAS Syndrome · Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)·Matched via name phrase
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"Fatal infantile lactic acidosis with methylmalonic aciduria" OR "SUCLG1 mitochondrial DNA depletion syndrome" OR "mitochondrial DNA depletion syndrome 9" OR "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" OR "mitochondrial DNA depletion syndrome type 9"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fatal infantile lactic acidosis with methylmalonic aciduria" OR "SUCLG1 mitochondrial DNA depletion syndrome" OR "mitochondrial DNA depletion syndrome 9" OR "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" OR "mitochondrial DNA depletion syndrome type 9" OR "SUCLG1"
Recall-expansion terms: SUCLG1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"lactic acidosis"
Query health: suspect — strategies attempted: phrase, 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 2026-07-26T12:06:52.030Z