NAD(P)HX dehydratase deficiency
Synonyms: CARKD deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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NAD(P)HX dehydratase deficiency?
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Advocacy Organizations
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.