Results 101 to 110 of about 80,661 (193)

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

Haematologica, 2005
Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine.
CD Campbell, J Ganesh, C Ficicioglu
doaj  

Cobamide metabolism, regulation, and adaptation in Mycobacterium tuberculosis

Journal of Bacteriology
Cobamides play a paradoxical but critical role in the biology of Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis. Although Mtb retains nearly all cobalamin (Cbl) biosynthetic genes and encodes multiple cobamide-requiring enzymes ...
Terry Kipkorir, Rendani D. Mbau, Digby F. Warner, Gopinath Krishnamoorthy, Atica Moosa   +4 more
doaj   +1 more source

Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics

Molecular Medicine
Methylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du, Miaomiao Li, Shengnan Wu, Xue Wu, Yongxing Chen, Changlian Zhu   +5 more
doaj   +1 more source

Hydroxypropionate-hydroxybutyrate cycle and tricarboxylic acid cycle in S. solfataricus with flux distribution for growth on HCO₃⁻.

, 2012
Solid arrows show the used pathways and their directions. Dashed arrows show available but not used pathways. Arrow size represents predicted flux though the pathways.
Melanie Zaparty (138042), Bettina Siebers (81513), S. Alexander Riemer (138038), Dietmar Schomburg (19141), Thomas Ulas (138035)   +4 more
core   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature

BMC Pediatrics
Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira   +9 more
doaj   +1 more source

Investigation of a novel intein-based Escherichia coli expression system for human methylmalonyl CoA mutase : a thesis presented to Massey University in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry [PDF]

, 2005
Human methylmalonyl CoA mutase (hMCM) is a 78 kDa homodimeric mitochondrial matrix enzyme. hMCM catalyses the conversion of 2R-methylmalonyl CoA to succinyl CoA in the metabolism of propionyl groups, and requires the vitamin B12 -derived cofactor ...
Clark, Alice Rosemary
core  

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases

International Journal of Neonatal Screening
Since October 2019, screening for methylmalonic acidemia (MMA) has been implemented in the Dutch Newborn Screening (NBS) program. Since implementation, most referrals for MMA have been the result of (maternal) vitamin B12 deficiency. Although vitamin B12
Nils W. F. Meijer, Klaas Koop, Rose E. Maase, Patricia L. Hall, Wouter F. Visser, Esmeralda Oussoren, Annet M. Bosch, M. Rebecca Heiner-Fokkema, Monique G. M. de Sain-van der Velden   +8 more
doaj   +1 more source

Formation and metabolism of methylmalonyl coenzyme A in Corynebacterium glutamicum

, 2009
Genome sequence information suggests that B(12)-dependent mutases are present in a number of bacteria, including members of the suborder Corynebacterineae like Mycobacterium tuberculosis and Corynebacterium glutamicum.
Lindley, N.D., N. D. Lindley, L. Botella, Botella, L., Eggeling, L., L. Eggeling   +5 more
core   +1 more source

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

JCI Insight
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremity
Irini Manoli, Justin R. Sysol, PamelaSara E. Head, Madeline W. Epping, Oksana Gavrilova, Melissa K. Crocker, Jennifer L. Sloan, Stefanos A. Koutsoukos, Cindy Wang, Yiouli P. Ktena, Sophia Mendelson, Alexandra R. Pass, Patricia M. Zerfas, Victoria Hoffmann, Hilary J. Vernon, Laura A. Fletcher, James C. Reynolds, Maria G. Tsokos, Constantine A. Stratakis, Stephan D. Voss, Kong Y. Chen, Rebecca J. Brown, Ada Hamosh, Gerard T. Berry, Xiaoyuan Shawn Chen, Jack A. Yanovski, Charles P. Venditti   +26 more
doaj   +1 more source

CLYBL averts vitamin B12 depletion by repairing malyl-CoA. [PDF]

peer reviewedCitrate lyase beta-like protein (CLYBL) is a ubiquitously expressed mammalian enzyme known for its role in the degradation of itaconate, a bactericidal immunometabolite produced in activated macrophages.
GAVOTTO, Floriane, LINSTER, Carole, PAYDAR, Parisa, XIE, Xinqiang, CONROTTE, Jean-François, Heins-Marroquin, Ursula, JÄGER, Christian, GRIFFITH, Corey, ELLENS, Kenneth   +8 more
core   +1 more source