ORPHA:329942
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Also known as: Transient neonatal MAD deficiency · Transient neonatal MADD · Transient neonatal glutaric acidemia type 2 · Transient neonatal glutaric aciduria type 2
Publications
2
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
11
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Transient multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, and , but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
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:0018014
- UMLS:C4509950
Additional Mondo synonyms (4)
transient neonatal MAD deficiency · transient neonatal MADD · transient neonatal glutaric acidemia type 2 · transient neonatal glutaric aciduria type 2
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2 matched papers (2 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; 11 for broader category acyl-CoA dehydrogenase deficiency
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
2
2 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.
2 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
11
Distinct author names in 2 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.
- 01Barbetti R1 paper · 2026
South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Papers in Europe PMC - 02Bratkovic D1 paper · 2026
Metabolic Unit, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Papers in Europe PMC - 03Coleman K1 paper · 2026
South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Papers in Europe PMC - 04Demetriou K1 paper · 2026
Metabolic Unit, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Papers in Europe PMC - 05Dhachpramuk D1 paper · 2025
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Papers in Europe PMC - 06Fraser L1 paper · 2026
Metabolic Unit, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Papers in Europe PMC - 07Jayadiwangsa E1 paper · 2026
Metabolic Unit, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Papers in Europe PMC - 08Laohathai P1 paper · 2025
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Papers in Europe PMC - 09Panichsillaphakit E1 paper · 2025
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Papers in Europe PMC - 10Siu CW1 paper · 2026
South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
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). 11 trials are registered for acyl-CoA dehydrogenase deficiency, 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.
11 interventional trials matched acyl-CoA dehydrogenase deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: acyl-CoA dehydrogenase deficiency
11
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
- NCT06773026·RECRUITING·Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Conditions: Medium-chain Acyl-CoA Dehydrogenase Deficiency·Matched via name phrase
- NCT06623032·RECRUITING·Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals
Conditions: Medium-chain Acyl-CoA Dehydrogenase Deficiency·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.
"Transient neonatal multiple acyl-CoA dehydrogenase deficiency" OR "Transient neonatal MAD deficiency" OR "Transient neonatal MADD" OR "Transient neonatal glutaric acidemia type 2" OR "Transient neonatal glutaric aciduria type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Transient neonatal multiple acyl-CoA dehydrogenase deficiency" OR "Transient neonatal MAD deficiency" OR "Transient neonatal MADD" OR "Transient neonatal glutaric acidemia type 2" OR "Transient neonatal glutaric aciduria type 2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"acyl-CoA dehydrogenase deficiency"
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
Ingested 2026-07-27T13:57:47.708Z