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Start free with EleplanNAD(P)HX dehydratase deficiency
ORPHA:555402Disease
Also called CARKD deficiency
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
14- Abnormal blistering of the skin
- Anemia
- Cerebral atrophy
- Decreased activity of mitochondrial respiratory chain
- EEG abnormality
- Elevated circulating C-reactive protein concentration
- Elevated circulating creatine kinase concentration
- Gait disturbance
- Increased circulating lactate concentration
- Increased CSF lactate
- Localized skin lesion
- Myopathy
- Seizure
- Vomiting
Sometimes5–29%
14- Abnormal basal ganglia morphology
- Ataxia
- Cardiomyopathy
- Cataract
- Cerebellar edema
- Conductive hearing impairment
- Congestive heart failure
- Dystonia
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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