Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/172034a0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Increased ROS levels, antioxidant defense disturbances and bioenergetic disruption induced by thiosulfate administration in the brain of neonatal rats.
Metab Brain Dis
December 2024
Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, 90035-003, RS, Brazil.
Sulfite oxidase deficiencies, either caused by deficiency of the apoenzyme or the molybdenum cofactor, and ethylmalonic encephalopathy are inherited disorders that impact sulfur metabolism. These patients present with severe neurodeterioration accompanied by cerebral cortex and cerebellum abnormalities, and high thiosulfate levels in plasma and tissues, including the brain. We aimed to clarify the mechanisms of such abnormalities, so we assessed the ex vivo effects of thiosulfate administration on energetic status and oxidative stress markers in cortical and cerebellar tissues of newborn rats.
View Article and Find Full Text PDFNovel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
BMC Med Genomics
December 2024
Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Background: Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication. MoCD may present in a clinically severe, fatal form marked by intractable seizures after birth, hyperekplexia, microcephaly and cerebral atrophy, or a later onset form with a more varied clinical course. Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) and type C (GPHN).
View Article and Find Full Text PDFTiming of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.
Genet Med Open
May 2024
Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset.
Methods: A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search.
The parasitic nematode Haemonchus contortus lacks molybdenum cofactor synthesis, leading to sulphite sensitivity and lethality in vitro.
Int J Parasitol
November 2024
School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Scotland G61 1QH, UK. Electronic address:
Sulphite oxidase has an essential role in detoxifying environmental and endogenously generated sulphite into sulphate and requires the molybdenum cofactor (Moco) to function. Until recently it was believed that the synthesis pathway for Moco was so important for survival that it was conserved in all multicellular animals. Here we report the use of comparative genomics to identify the absence of the first enzyme involved in Moco synthesis in Haemonchus contortus, a highly pathogenic and economically important helminth of livestock that, similar to many parasitic nematode species, has proved difficult to maintain in vitro.
View Article and Find Full Text PDFGenetic neonatal seizures in the neonatal intensive care unit: Diagnostic and prognostic implications for three families.
Epileptic Disord
November 2024
Department of Neonatology, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.
Article Synopsis
- * Whole exome sequencing and other analyses revealed important genetic variants: bi-allelic variants in MOCS1 linked to molybdenum cofactor deficiency, and a KCNQ2 variant associated with seizures.
- * The research demonstrated that whole exome sequencing can effectively diagnose the genetic causes of neonatal seizures, contributing to our understanding of related phenotypes, especially with sodium channel gene duplications.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!