NAD(P)HX epimerase deficiency
Synonyms: Apolipoprotein A-I binding protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NAD(P)HX epimerase deficiency | Apolipoprotein A-I binding protein deficiency |
| fr | Déficit en NAD(P)HX épimérase | Déficit en protéine de liaison apolipoprotéine A-I |
| de | NAD(P)HX-Epimerase-Mangel | Apolipoprotein A-I-Binding-Protein-Mangel |
| es | Deficiencia de NAD(P)HX epimerasa | Deficiencia de proteína de unión apolipoproteína A-I |
| it | Deficit di NAD(P)HX epimerasi | |
| nl | NAD(P)HX-epimerasedeficiëntie | Deficiëntie van apolipoproteïne A-I-bindingsproteïne |
| pt | Deficiência de NAD(P)HX epimerase | |
| pl | Niedobór epimerazy NAD(P)HX | = en |
| cs | Deficit NAD(P)HX epimerázy | Deficit vazebného proteinu apolipoproteinu A-I |
| uk | Дефіцит епімерази NAD(P)HX | Дефіцит аполіпопротеїну A-I, що звязує білок |
| zh | NAD(P)HX表表异构酶缺乏 | 载脂蛋白A-I结合蛋白缺乏 |
| tr | NAD (P) HX epimeraz eksikliği | Apolipoprotein A-I bağlayıcı protein eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617186 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C5Y | NTBT | attributed | validated |
| MONDO | 0020781 | E | validated | |
| UMLS | C4310675 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NAXE | Disease-causing germline mutation(s) in | Assessed | HGNC:18453 | ENSG00000163382 | 608862 | 1q22 | NAD(P)HX epimerase | 27616477[PMID]_27122014[PMID]_29884839[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 27616477[PMID]_27122014[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27616477[PMID]_27122014[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2026-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| Frequent (79-30%) | ||
| HP:0001289 | Confusion | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0011203 | EEG with abnormally slow frequencies | |
| HP:0001288 | Gait disturbance | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001252 | Hypotonia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0012444 | Brain atrophy | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002181 | Cerebral edema | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0011355 | Localized skin lesion | |
| HP:0002196 | Myelopathy | |
| HP:0001336 | Myoclonus | |
| HP:0000639 | Nystagmus | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 34678889[PMID]_35637064[PMID]_38419707[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/555407
- This record as JSON: /data/d/555407.json