ORPHA:555407
NAD(P)HX epimerase deficiency
Also known as: Apolipoprotein A-I binding protein deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare neurometabolic disease characterized by onset of rapidly neurological deterioration, typically precipitated by a febrile illness. Patients present with , loss of previously acquired motor milestones and cognitive skills, , nystagmus, tremor, , tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has 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.
Is anyone studying this?
5
5 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=183) is 38.
5 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
5 in the last 10 years · high confidence · 22.4th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (NAXE).
GenCC classification: Strong.
Who's working on it?
41
Distinct author names in 5 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.
- 01Ferreira CR2 papers · 2022
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 02van Karnebeek CDM2 papers · 2022
Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands. clara.vankarnebeek@radboudumc.nl.
Papers in Europe PMC - 03Achouri Y1 paper · 2019
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.
Papers in Europe PMC - 04Bommer GT1 paper · 2019
Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium.
Papers in Europe PMC - 05Carninci P1 paper · 2024
Laboratory for Transcriptome Technology, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan.
Papers in Europe PMC - 06Chevalier N1 paper · 2019
Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium.
Papers in Europe PMC - 07Defour JP1 paper · 2019
Groupe de Recherches Metaboliques, de Duve Institute, UCLouvain (Université Catholique de Louvain), B-1200 Brussels, Belgium.
Papers in Europe PMC - 08Dewulf JP1 paper · 2019
Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium.
Papers in Europe PMC - 09Ferster A1 paper · 2019
Department of Hematology/Oncology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, B-1020 Brussels, Belgium.
Papers in Europe PMC - 10Fukunaga M1 paper · 2024
Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"NAD(P)HX epimerase deficiency" OR "Apolipoprotein A-I binding protein deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"NAD(P)HX epimerase deficiency" OR "Apolipoprotein A-I binding protein deficiency" OR "NAXE"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617186 UMLS:C4310675
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