ORPHA:1933
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Also known as: Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome · mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
22
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
194
Distinct authors in sample
Gene link
SUCLA2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare DNA depletion syndrome characterized by or onset of global , , , neurologic decline, sensorineural deafness, and movement disorder. , external ophthalmoplegia, polyneuropathy, , and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic and mild methylmalonic aciduria.
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:0012791
- MeSH:C567624
- OMIM:612073
- UMLS:C5980207
Additional Mondo synonyms (4)
booth-Haworth-Dilling syndrome · mitochondrial DNA depletion syndrome 5 · mitochondrial DNA depletion syndrome type 5 · mitochondrial encephalomyopathy-aminoacidopathy syndrome
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 — SUCLA2
- LiteraturePresent
22 matched papers (15 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 (SUCLA2).
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?
22
22 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.
22 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).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 22 · MeSH hits: 0
Who's working on it?
194
Distinct author names in 22 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.
- 01El-Hattab AW2 papers · 1993
Associate Professor, Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates
Papers in Europe PMC - 02Scaglia F2 papers · 1993
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
Papers in Europe PMC - 03Al Asmar D1 paper · 2025
Division of Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.
Papers in Europe PMC - 04Al Balwi M1 paper · 2016
King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 05Al Khudari R1 paper · 2025
Department of Pediatrics, Children's University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria. alkhudarirawan@gmail.com.
Papers in Europe PMC - 06Al Mutairi F1 paper · 2016
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 07Al Othaim A1 paper · 2016
King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Alfadhel M1 paper · 2016
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. dralfadhelm@gmail.com.
Papers in Europe PMC - 09Alfares AA1 paper · 2016
Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Papers in Europe PMC - 10Alzaben A1 paper · 2016
Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
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.
Broader category mitochondrial DNA depletion syndrome, encephalomyopathic form also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: mitochondrial DNA depletion syndrome, encephalomyopathic form
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "Booth-Haworth-Dilling syndrome" OR "Mitochondrial encephalomyopathy-aminoacidopathy syndrome" OR "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "mitochondrial DNA depletion syndrome 5" OR "mitochondrial DNA depletion syndrome type 5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "Booth-Haworth-Dilling syndrome" OR "Mitochondrial encephalomyopathy-aminoacidopathy syndrome" OR "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "mitochondrial DNA depletion syndrome 5" OR "mitochondrial DNA depletion syndrome type 5" OR "SUCLA2"
Recall-expansion terms: SUCLA2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"mitochondrial DNA depletion syndrome, encephalomyopathic form"
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 2026-07-26T18:33:00.291Z