has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of NAXD ATP-dependent NAD(P)H-hydrate dehydratase activity autosomal recessive disease encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy inborn errors of metabolism NAD(P)HX dehydratase deficiency https://www.malacards.org/card/encephalopathy_progressive_early_onset_with_brain_edema_and_or_leukoencephalopathy_2 https://www.malacards.org/card/nad_hx_dehydratase_deficiency OMIM:618321 PEBEL2 UMLS:C5193026 Orphanet:555402 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 MONDO:0034121 GARD:0017990 MEDGEN:1681210