Article ; Online: Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
International journal of molecular sciences
2023 Volume 24, Issue 4
Abstract: We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is ... ...
Abstract | We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age. The clinical deterioration and demise of this individual were likely triggered by mild head trauma. This patient had a novel homozygous |
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MeSH term(s) | Adult ; Child ; Child, Preschool ; Humans ; Hydro-Lyases/metabolism ; Mitochondria/metabolism ; NAD/metabolism ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Proteomics ; Brain Concussion/complications ; Brain Concussion/genetics ; Brain Diseases, Metabolic/etiology ; Brain Diseases, Metabolic/genetics |
Chemical Substances | Hydro-Lyases (EC 4.2.1.-) ; NAD (0U46U6E8UK) ; NAXD protein, human (EC 4.2.1.93) |
Language | English |
Publishing date | 2023-02-10 |
Publishing country | Switzerland |
Document type | Case Reports |
ZDB-ID | 2019364-6 |
ISSN | 1422-0067 ; 1422-0067 ; 1661-6596 |
ISSN (online) | 1422-0067 |
ISSN | 1422-0067 ; 1661-6596 |
DOI | 10.3390/ijms24043582 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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