NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

Purvi Majethia, Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2; MIM# 618321), caused by biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) is a rare metabolite repair disorder. It is characterized by progressive neurological deterioration usually associated with a febrile illness. The other common findings include skin lesions, elevated serum or cerebrospinal fluid lactate levels, and brain neuroimaging abnormalities. Currently, variants in NAXD have been reported in eight unrelated individuals including six truncating and six missense variants. We report on an additional individual with characteristic findings of PEBEL2, and an additional finding of sparse scalp hair. A novel missense variant c.301G > A, p.(Ala101Thr) in a homozygous state was identified through exome sequencing. This study adds to the phenotypic and mutational spectrum of PEBEL2. We review the existing phenotypic and genotypic information for the individuals with this neurometabolic condition.

Original languageEnglish
Article number104266
JournalEuropean Journal of Medical Genetics
Issue number9
Publication statusPublished - 09-2021

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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