PEBEL

Definition:

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, and skin lesions. It is triggered by febrile infections, leading to coma and finally to death within the first 3 years of life. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause PEBEL1. Biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) cause PEBEL2.

References:

[1]. Laura S Kremer, et al. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. Am J Hum Genet. 2016 Oct 6;99(4):894-902. [Content Brief]

[2]. Nicole J Van Bergen, et al. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain. 2019 Jan 1;142(1):50-58. [Content Brief]

[3]. Ronen Spiegel, et al. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. Neurogenetics. 2016 Jul;17(3):187-90. [Content Brief]

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