KEGG DISEASE: PEBEL

KEGG

DISEASE: PEBEL

Entry

H02262                      Disease

Name

PEBEL;
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy

Description

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.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Other disorders of the nervous system
   8E47  Encephalopathy, not elsewhere classified
    H02262  PEBEL

Gene

(PABEL1) NAXE [HSA:128240] [KO:K17759]
(PABEL2) NAXD [HSA:55739] [KO:K17757]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Kremer LS, Danhauser K, Herebian D, Petkovic Ramadza D, Piekutowska-Abramczuk D, Seibt A, Muller-Felber W, Haack TB, Ploski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H

Title

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

Journal

Am J Hum Genet 99:894-902 (2016)
DOI:10.1016/j.ajhg.2016.07.018

Reference

Authors

Spiegel R, Shaag A, Shalev S, Elpeleg O

Title

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Journal

Neurogenetics 17:187-90 (2016)
DOI:10.1007/s10048-016-0483-3

Reference

Authors

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H

Title

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Journal

Brain 142:50-58 (2019)
DOI:10.1093/brain/awy310

LinkDB

» Japanese version

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