NAD(P)HX dehydratase deficiency
Synonyms: CARKD deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NAD(P)HX dehydratase deficiency | CARKD deficiency |
| fr | Déficit en NAD(P)HX déshydratase | Déficit en CARKD |
| de | NAD(P)HX-Dehydratase-Mangel | CARKD-Mangel |
| es | Deficiencia de NAD(P)HX deshidratasa | Deficiencia de CARKD |
| it | Deficit di NAD(P)HX deidratasi | |
| nl | NAD(P)HX-dehydratasedeficiëntie | CARKD-deficiëntie |
| pt | Deficiência de NAD(P)HX desidratase | |
| pl | Niedobór dehydratazy NAD(P)HX | = en |
| cs | Deficit NAD(P)HX dehydratázy | Deficit CARKD |
| uk | Дефіцит дегідратази NAD(P)HX | Дефіцит серцево-судинної системи |
| zh | NAD(P)HX脱水酶缺乏 | CARKD基因缺陷 |
| tr | NAD (P) HX dehidrataz eksikliği | CARKD eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618321 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C5Y | NTBT | attributed | validated |
| MONDO | 0034121 | E | validated | |
| UMLS | C5193026 | 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 |
|---|---|---|---|---|---|---|---|---|
| NAXD | Disease-causing germline mutation(s) in | Assessed | HGNC:25576 | ENSG00000213995 | 615910 | 13q34 | NAD(P)HX dehydratase | 30576410[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 30576410[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30576410[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
30 annotations · validated 2026-01-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002376 | Developmental regression | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001903 | Anemia | |
| HP:0002059 | Cerebral atrophy | |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain | |
| HP:0002353 | EEG abnormality | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0011355 | Localized skin lesion | |
| HP:0003198 | Myopathy | |
| HP:0001250 | Seizure | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001251 | Ataxia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0030915 | Cerebellar edema | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0001332 | Dystonia | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0001254 | Lethargy | |
| HP:0012819 | Myocarditis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001876 | Pancytopenia | |
| HP:0033725 | Thin corpus callosum | |
| Very rare (<4-1%) | ||
| HP:0002209 | Sparse scalp hair | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 39822994[PMID]_36158054[PMID]_34161859[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/555402
- This record as JSON: /data/d/555402.json