Results 21 to 30 of about 564,598 (106)

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies [PDF]

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 598-623, July 2024.
Abstract Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute ...
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout   +11 more
wiley   +2 more sources

Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature

Egyptian Journal of Medical Human Genetics
Background Molybdenum cofactor deficiency (MoCD) is a rare genetic disease primarily affecting the nervous system. While xanthinuria is a typical feature of MoCD, xanthine stones have been rarely described.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Rofaida M. Magdy, Mohammed Fawzy Fouad, Tarek M. M. Mansour, Eman Fathalla Gad, Elsayed Abdelkreem   +6 more
doaj   +2 more sources

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency. [PDF]

Eur J Pediatr
Xanthinurias are rare inherited disorders of purine metabolism. Xanthinuria type III is caused by molybdenum cofactor deficiency (MoCD) due to pathogenic variants in MOCS1, MOCS2, MOCS3, or GEPH genes.
Cho SK, Schwarz G, Tasic V, Křížková M, Krijt J, Roeper J, Honzík T, Šebesta I, Kožich V, Šaligová J, Pavelcova K, Masinova J, Winkler CA, Stiburkova B.   +13 more
europepmc   +2 more sources

Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy. [PDF]

J Clin Med
Introduction: Molybdenum cofactor deficiency (MoCD) is a rare, lethal disorder characterized by early-onset encephalopathy and seizures. In 2021, fosdenopterin (NulibryTM) became the first FDA-approved treatment for MoCD type A (MoCD-A).
Etchegaray A, Haffner D, Cruz SM, Ogunleye O, Xia J, Schlegel A, Olutoye OO, Chaudhari BP.   +7 more
europepmc   +2 more sources

Molybdenum cofactor deficiency (MOCS2): A rare case report delineating as severe neonatal presentation as hypoxic-ischemic encephalopathy due to Molybdenum cofactor deficiency / isolated sulfite oxidase deficiency.

International Journal of Medical Sciences and Academic Research, 2023
INTRODUCTION: We report a infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were intractable neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hypotona,low blood uric acid ...
Dr.shruti dhale , Dr.Anjali Pawar, Dr.shubham Meshram , Dr.Shantanu Sarpate   +3 more
doaj   +1 more source

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

Molecular Genetics &Genomic Medicine, Volume 9, Issue 2, February 2021., 2021
Isolated sulfite oxidase deficiency (ISOD) is a life‐threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX gene. The nonsense pathogenic variants (c.1200C > G (p.Y400*)) and a duplication (c.1549_1574dup (p.525 Mfs*102)) were found in the SUOX gene in the proband.
Peng Du, Reem N. Hassan, Hualei Luo, Jie Xie, Yue Zhu, Qiuyue Hu, Jin Yan, Weiying Jiang   +7 more
wiley   +1 more source

Oxygen and nitrite reduction by heme‐deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency

Journal of Inherited Metabolic Disease, Volume 43, Issue 4, Page 748-757, July 2020., 2020
Abstract Isolated sulphite oxidase deficiency (iSOD) is an autosomal recessive inborn error in metabolism characterised by accumulation of sulphite, which leads to death in early infancy. Sulphite oxidase (SO) is encoded by the SUOX gene and forms a heme‐ and molybdenum‐cofactor‐dependent enzyme localised in the intermembrane space of mitochondria ...
Daniel Bender, Alexander T. Kaczmarek, Sabina Kuester, Alberto B. Burlina, Guenter Schwarz   +4 more
wiley   +1 more source

S-sulfocysteine/NMDA receptor–dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency [PDF]

, 2017
Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism characterized by neurodegeneration and death in early childhood.
Borislav Dejanovic, Schwarz, G, Winkelmann, A, Jose Angel Santamaria-Araujo, Kumar, A, Meier, JC, Hetsch, F., Fusca, D., Ayton, S., Kloppenburg, P, Guenter Schwarz, Kumar, A., Semtner, M, Santamaria-Araujo, JA, Jochen C. Meier, Schwarz, G., Kloppenburg, P., Marcus Semtner, Bush, A.I., Florian Hetsch, Peter Kloppenburg, Debora Fusca, Scott Ayton, Belaidi, AA, Fusca, D, Santamaria-Araujo, J.A., Meier, J.C., Avadh Kumar, Arjune, S., Dejanovic, B, Dejanovic, B., Arjune, S, Sita Arjune, Bush, AI, Hetsch, F, Aline Winkelmann, Semtner, M., Ayton, S, Belaidi, A.A., Abdel Ali Belaidi, Winkelmann, A., Ashley I. Bush   +41 more
core   +1 more source

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

, 2010
Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes.
Jon Fairweather, Jochen Reiss, Schwarz, Günter, Joy Yaplito-lee, Veldman, Alex, Cook, Iain, Yaplito-Lee, Joy, Guenter Schwarz, Fairweather, Jon, Clive Andrew Ramsden, Alex Veldman, José Angel Santamaria-araujo, James Pitt, Sollazzo, Silvio, Silvio Sollazzo, Ramsden, Clive Andrew, Flora Wong, Schwarz, Guenter, Pitt, James, Santamaria-Araujo, Jose Angel, Gianello, Robert, Reiss, Jochen, Wong, Flora   +22 more
core   +2 more sources

Molybdenum Cofactor Deficiency Type B Mimicking Hypoxic-Ischemic Encephalopathy in a Neonate: The First Genetically Confirmed Case in Korea [PDF]

Neonatal Medicine
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive neurodegenerative disorder that often mimics hypoxic-ischemic encephalopathy (HIE) in neonates, leading to delayed diagnosis. Here, a term female neonate developed refractory seizures on
Soowan Shin, Baek Sup Shin, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Jung Min Ko, Jong-Hee Chae, Soo Yeon Kim, Seung Bok Lee   +8 more
doaj   +1 more source