Living with NAD(P)HX dehydratase deficiency
A rare condition of the nervous system and metabolism, with repeated episodes of lost skills, often set off by fevers, in infancy and childhood.
Understanding NAD(P)HX dehydratase deficiency
People have repeated episodes of lost skills and nervous system decline (neurodegeneration), often set off by illness with a fever. Features include low energy, low muscle tone, irritability, trouble with balance, loss of speech, movement problems, seizures, eye muscle paralysis, and hearing loss. Skin problems, heart muscle disease, and low blood cell counts have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of skills (developmental regression)
- Delayed development
- Low energy (lethargy)
- Vomiting
- Skin rash
- Low blood cell counts (pancytopenia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in NAXD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the NAXD gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: carkd deficiency; encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with NAD(P)HX dehydratase deficiency.
Explore research for NAD(P)HX dehydratase deficiency
Explore actively recruiting NAD(P)HX dehydratase deficiency studies with HealthSpark.
Find actively recruiting studies for NAD(P)HX dehydratase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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