Article
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.
Journal of inherited metabolic disease - 1 Jul 2026
Seyedkatouli Najmesadat, Semcesen Liana N, Gallucci Lucia, Sikora Tim, Conrotte Jean-François, Du Mei R M, Kasakin Marat, Seferi Gezime, Corona Licia, Jakubec Martin, Nijagal Brunda, Lala Sajel, Ganetzky Rebecca D, Barreto Ana Maria Rodriguez, Szlago Marina, Wong Melanie, Shah Margit, Nurse James, Foulds Nicola, Sadagopan Shankar, Thu Ha Nguyen, Chi Dung Vu, Ngoc Khanh Nguyen, de Silva Michelle G, Ramialison Mirana, Rossello Fernando, Thorburn David R, Lynch Matthew, McGrath Pauline, Stroud David A, Christodoulou John, Linster Carole L, Van Bergen Nicole J
Abstract excerpt
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) is a rare autosomal recessive neurometabolic disorder caused by pathogenic variants in NAXD, in which febrile illness or infection triggers rapid clinical deterioration. We describe nine new cases that expand the clinical and molecular spectrum. Four children showed the typical presentation of severe neurological decline...
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