Results 81 to 90 of about 12,645 (222)

Causes of and diagnostic approach to methylmalonic acidurias [PDF]

, 2018
Summary: Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which
Baumgartner, M., Fowler, B., Leonard, J.
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Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are
Brandon K. Walther, Brittany M. Murray, Poornima Pandiyan, Randall Ray, Laura Yeoh, Amy Kritzer   +5 more
wiley   +1 more source

Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia [PDF]

, 2013
We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in
George Imataka, Go Tajima, Hideo Yamanouchi, Osamu Arisaka, Osamu Sakamoto, Shigemi Yoshihara, Yuki Omura-Hasegawa   +6 more
core   +1 more source

Aging‐Derived Alterations in Genomic, Immune, and Metabolic Networks: Implications for Cancer Development and Therapy

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Ageing acts as a double‐edged sword in cancer. In the elderly, open chromatin, immunosenescence, and chronic inflammation drive SASP (IL‐6, MMPs), MDSC accumulation and T‐cell suppression, fostering tumor‐promoting microenvironments and limited therapeutic benefit.
Qi Wang, Xue Sun, Xinhao Han, Xingda Zhang, Wenzheng Wang, Hongbin Wang, He Ren, Lina Gu   +7 more
wiley   +1 more source

بررسی سطح سرمی ويتامين B12، Folate و هموسيستئين در سالمندان سالم تهرانی [PDF]

, 2009
زمينه و هدف: از آنجائيکه جذب کوبالامين اغلب در سالمندان کاهش می‌يابد، کمبود ويتامين B12 يکی از مشکلات شايع در اين افراد است. تحقيقات اخير نشان می‌دهند که ميزان ناکافی ويتامين B12 ممکن است خطر ابتلا به بيماری‌های آترواسکلروتيک و نورودژنراتيو را افزايش دهد.
خدابنده‌لو, نیلوفر, فروغان, مهشید, قلعه‌بندی, میرفرهاد, نجومی, مرضیه, وکيلی, مسعود   +4 more
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Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia

Orphanet Journal of Rare Diseases
Background Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA ...
I.-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, Cheng-Yu Lee, Sheng-Bin Liang, Yann-Jang Chen   +5 more
doaj   +1 more source

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

International Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source

Cloning and expression of the Propionibacterium shermanii methylmalonyl-CoA epimerase gene in Escherichia coli : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry at Massey University [PDF]

, 1994
Genomic DNA was isolated from Propionibacterium shermanii (52W). A 454 bp DNA fragment coding for the methylmalonyl-CoA epimerase (EC 5.1.99.1, subsequently referred to as epimerase) was amplified from genomic DNA by the polymerase chain reaction using ...
Saafi, 'Etuate Lui
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Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources