Literature summary for 5.1.99.6 extracted from

Kremer, L.S.; Danhauser, K.; Herebian, D.; Petkovic Ramadza, D.; Piekutowska-Abramczuk, D.; Seibt, A.; Mueller-Felber, W.; Haack, T.B.; Ploski, R.; Lohmeier, K.; Schneider, D.; Klee, D.; Rokicki, D.; Mayatepek, E.; Strom, T.M.; Meitinger, T.; Klopstock, T.; Pronicka, E.; Mayr, J.A.; Baric, I.; Distelmaier, F.; Prokisch, H.
NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood (2016), Am. J. Hum. Genet., 99, 894-902 .

Application

Application	Comment	Organism
medicine	pathogenic biallelic mutations in NAXE in children from four families lead to (sub-)acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions. Lactate is elevated in cerebrospinal fluid of all affected individuals. Disease onset is during the second year of life and clinical signs as well as episodes of deterioration are triggered by febrile infections. Disease course is rapidly progressive, leading to coma, global brain atrophy, and finally to death in all affected individuals. NAXE levels are undetectable in fibroblasts from affected individuals of two families. These fibroblasts show highly elevated concentrations of the toxic metabolite cyclic-NADHX	Homo sapiens

Cloned (Comment)	Organism
-	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8NCW5	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Synonyms	Comment	Organism
APOA1BP	-	Homo sapiens
NAXE	-	Homo sapiens