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ORPHA:17

Fatal infantile lactic acidosis with methylmalonic aciduria

low confidenceDisorder

Publications

1,273

Trials

0

Interventional, condition-specific

Researchers

1,332

Distinct authors in sample

Gene link

SUCLG1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — SUCLG1

  2. LiteraturePresent

    1,273 matched papers (964 in last 10 years) Source

  3. Phenotype characterisedPresent

    109 HPO annotations (e.g. Hypothermia; Hypotonia; Hypoglycemia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

109

Associated phenotypes · MONDO:0009504

  • Hypothermia
  • Hypotonia
  • Hypoglycemia
  • Lacticaciduria
  • Lactic acidosis

Showing 5 of 109 — 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?

1,273

1,273 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.

1,273 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).

964 in the last 10 years · low confidence

Phrase hits: 21 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,332

Distinct author names in 200 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.

  1. 01
    Zhang Y20 papers · 2026

    Division of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.

    Papers in Europe PMC
  2. 02
    Wang Y14 papers · 2026

    Academy of Medical Engineering and Translational Medicine, Tianjin University, Tianjin 300072, China.

    Papers in Europe PMC
  3. 03
    Wang J12 papers · 2026

    Department of Basic Medicine, Haihe Hospital, Tianjin University, Tianjin 300350, China.

    Papers in Europe PMC
  4. 04
    Liu Y10 papers · 2026

    Department of Cardiovascular Surgery, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  5. 05
    Zhang X10 papers · 2026

    College of Animal Science and Technology, Yangzhou University, Yangzhou, China.

    Papers in Europe PMC
  6. 06
    Wang L9 papers · 2026

    Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, 046000, Shanxi, China.

    Papers in Europe PMC
  7. 07
    Li X8 papers · 2026

    Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

    Papers in Europe PMC
  8. 08
    Wang H8 papers · 2025

    Department of Oncology, The Second Hospital of Tianjin Medical University, Tianjin Key Laboratory of Precision Medicine for Sex Hormones and Diseases, Tianjin, China.

    Papers in Europe PMC
  9. 09
    Liu Z7 papers · 2026

    Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Wang X7 papers · 2025

    Meat Processing Key Laboratory of Sichuan Province, College of Food and Biological Engineering, Chengdu University, Chengdu 610106, China.

    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 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.

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

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 2026-07-29

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 Fatal infantile lactic acidosis with methylmalonic aciduria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("SUCLG1" OR "SUCLG1 syndrome" OR "SUCLG1-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (1273) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:06:52.030Z