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Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang
BACKGROUND: The most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which are milder. In this study, the first case of an asymptomatic Chinese woman with a defect in congenital cobalamin (cblC type) metabolism at prenatal diagnosis due to elevated homocysteine level is identified...
2023: Frontiers in Nutrition
#22
JOURNAL ARTICLE
Mengmeng Du, Shengnan Wu, Chang Su, Xiaohong Wang, Bingbing Li, Yifan Lin, Shuxian Yuan, Yongxing Chen, Changlian Zhu, Haiyan Wei
BACKGROUND AND AIMS: Vitamin B12 (cobalamin, VitB12) is an essential coenzyme of methylmalonyl-CoA mutase and methionine synthase. Variations in VitB12 metabolism, absorption, transport, or intake may cause changes in methylmalonic acidemia (MMA) biomarkers. We aimed to investigate whether serum Vitamin B12 levels could be used in the early detection of MMA. MATERIALS AND METHODS: We included 241 children with MMA and 241 healthy matched controls. We measured serum VitB12 levels by an enzyme immunoassay and investigated the relationship between abnormal VitB12 levels and hematologic parameters as potential risk factors for MMA symptoms...
May 20, 2023: Clinica Chimica Acta; International Journal of Clinical Chemistry
#23
JOURNAL ARTICLE
David Paz, Briana E Pinales, Barbara S Castellanos, Isaiah Perez, Claudia B Gil, Lourdes Jimenez Madrigal, Nayeli G Reyes-Nava, Victoria L Castro, Jennifer L Sloan, Anita M Quintana
Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described. Mouse models of Mmachc deletion are embryonic lethal but cause severe craniofacial phenotypes such as facial clefts. MMACHC encodes an enzyme required for cobalamin processing and variants in this gene result in the accumulation of two metabolites: methylmalonic acid (MMA) and homocysteine (HC)...
May 5, 2023: Differentiation; Research in Biological Diversity
#24
JOURNAL ARTICLE
Haining Yang, Mian Li, Liang Zou, Hui Zou, Yan Zhao, Yazhou Cui, Jinxiang Han
Methylmalonic acidemia with homocystinuria (MMA-cblC) is an autosomal recessive genetic disorder of organic acid metabolism. Shandong, a northern province of China, has a significantly high incidence of about 1/4,000, suggesting a high carrying rate among the local population. The current study established a PCR technique involving high-resolution melting (HRM) to screen for carriers based on hotspot mutation analysis to further develop a preventive strategy to reduce the local incidence of this rare disease...
February 2023: Intractable & Rare Diseases Research
#25
David Paz, Briana E Pinales, Barbara S Castellanos, Isaiah Perez, Claudia B Gil, Lourdes Jimenez Madrigal, Nayeli G Reyes-Nava, Victoria L Castro, Jennifer L Sloan, Anita M Quintana
Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described. Mouse models of Mmachc deletion are embryonic lethal but cause severe craniofacial phenotypes such as facial clefts. MMACHC encodes an enzyme required for cobalamin processing and variants in this gene result in the accumulation of two metabolites: methylmalonic acid (MMA) and homocysteine (HC)...
January 21, 2023: bioRxiv
#26
JOURNAL ARTICLE
Kimberly A Chapman, Devon MacEachern, Gerald F Cox, Mavis Waller, Jeanine Fogarty, Suzanne Granger, Miganush Stepanians, Susan Waisbren
INTRODUCTION: This pilot study assessed instruments measuring relatively discrete neuropsychological domains to inform the selection of clinical outcome assessments that may be considered for interventional trials in methylmalonic acidemia (MMA) and propionic acidemia (PA). METHODS: Tests and questionnaires were selected for their possible relevance to MMA and PA and potential sensitivity to modest changes in functioning and behavior. RESULTS: Twenty-one patients (<18 years, n = 10;>18 years, n = 11) and/or their caregivers responded to video interviews and paper tests...
March 2023: Molecular Genetics and Metabolism Reports
#27
JOURNAL ARTICLE
Mei-Yan Song, Xiao-Lan Huang, Fang Wang, Min Zhang, La-la Mi, Zhi-Zhen Liu
Objective To develop a method for the quantification of amino acids and organic acids in trace urine by high performance liquid chromatography-tandem mass spectrometry.Methods Random urine samples(10 μl each)were precipitated by acetonitrile and underwent derivatization with 3 mol/L HCl in n-butanol.The analytes were separated by ACE Excel 2 AQ column(50×2.1 mm,2 μm).Electrospray ionization in positive ion mode was carried out and the analytes were detected in multiple reaction monitoring mode...
December 2022: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
#28
JOURNAL ARTICLE
Shuqi Sun, Hong Jin, Yu Rong, Wenqi Song, Qiliang Li
BACKGROUND: The cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3), decreased free carnitine (C0). In this study, we aimed to clarify the roles of these biomarkers in cblC-MMA induced cognitive impairment and evaluate the capacity of methylmalonic acid in different fluids or exosomes to distinguish cblC-MMA induced cognitive impairment...
2022: Frontiers in Neurology
#29
JOURNAL ARTICLE
Dongmei Li, Juan Guo
BACKGROUND: Children with attention deficit hyperactivity disorder (ADHD) are mainly characterized by learning difficulties, emotional impulsion, excessive activity, and distracted attention, which have a certain impact on their social ability, physical and mental health, and their living ability. This study aims to explore the effects of theme building block games on the psychological behaviors of children with ADHD, and to provide some reference for promoting the mental health development of children with ADHD...
2022: Psychiatria Danubina
#30
JOURNAL ARTICLE
Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration.
Christopher Goyne, Leena Kansal
Cobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12. This leads to a wide range of clinical manifestations including cognitive impairment, psychiatric symptoms, myelopathy, thrombotic events, glomerulonephritis, and pulmonary arterial hypertension. CblC deficiency typically presents in the pediatric population but can also present in adulthood. Diagnosis in adults can be challenging due to the rarity of this condition and its myriad clinical presentations...
December 21, 2022: Neurology
#31
JOURNAL ARTICLE
Xin Zhang, Xinli Liu, Renhua Xiong, Han-Xiang An
Dysregulation of the ubiquitin-proteasome system (UPS) pathway greatly affects uncontrolled proliferation, genomic instability, and carcinogenesis, particularly in those with renal papillary cell carcinoma (PRCC). However, there is little information at the molecular level about the full link between changes in the genes involved in ubiquitin-mediated proteolysis and PRCC. METHODS: The Cancer Genome Atlas (TCGA) and GeneCards databases were utilized to find the clinical data and gene expression patterns of patients with PRCC...
November 16, 2022: Aging
#32
RANDOMIZED CONTROLLED TRIAL
Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
BACKGROUND: Betaine is an "alternate" methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for more than 30 years in pyridoxine non-responsive cystathionine beta-synthase (pnrCBS) and cobalamin C (cblC) deficiencies to lower the hyperhomocysteinemia, although little is known about the optimal therapeutic dosage and its pharmacokinetic in these patients. AIMS: We compared 2 betaine doses (100 mg/kg/day vs...
November 14, 2022: Orphanet Journal of Rare Diseases
#33
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC , can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presented with depression identified with the MMACHC gene. We summarized the clinical features of the cblC defect, the relationship between genotype and phenotype, and the clinical experience concerning the diagnosis and treatment of the cblC defect...
2022: Frontiers in Genetics
#34
JOURNAL ARTICLE
Li Zhou, Qin Yang
Combined methylmalonic acidemia and homocystinuria, is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. We report an 18-year-old Chinese male who presented with hypermyotonia, seizures, and congenital heart diseases. Mutation analysis revealed c.365A>T and c.482 G>A mutations in the MMACHC gene, diagnosed with methylmalonic aciduria and homocystinuria (CblC type). After treatment with vitamin B12 , L-carnitine, betaine, and folate, which resulted in an improvement in his clinical symptoms and laboratory values...
October 11, 2022: Neurocase
#35
JOURNAL ARTICLE
Lei Li, Yanjie Xia, Shuang Hu, Guiying Cheng, Xiaofan Zhu, Yang Liu, Xiangdong Kong
OBJECTIVE: To detect variants of the MMACHC gene among 110 ethnic Han Chinese pedigrees affected with metabolic deficiency methylmalonic acidemia (MMA) of cobalamin C (cblC). METHODS: Peripheral blood samples were collected from the probands and their parents. Following DNA extraction, the coding regions of the MMACHC gene were subjected to PCR amplification, Sanger sequencing and quantitative PCR assaying. For 48 pedigrees, chorionic villus samples were taken for prenatal genetic diagnosis...
October 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#36
REVIEW
Anna J Esser, Srijan Mukherjee, Ilia A Dereven'kov, Sergei V Makarov, Donald W Jacobsen, Ute Spiekerkoetter, Luciana Hannibal
Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12 ) lead to hematological and neurological manifestations. The cblC disease (cobalamin complementation type C) is an autosomal recessive disorder caused by mutations and epi-mutations in the MMACHC gene and the most common inborn error of B12 metabolism. Pathogenic mutations in MMACHC disrupt enzymatic processing of B12 , an indispensable step before micronutrient utilization by the two B12 -dependent enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT)...
September 16, 2022: IScience
#37
JOURNAL ARTICLE
Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang
BACKGROUND: cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investigate the clinical features of patients with late-onset cblC deficiency and explore diagnosis and management strategies around puberty. RESULTS: This study included 56 patients (35 males and 21 females) with late-onset cblC deficiency who were admitted to our clinic between 2002 and September 2021...
September 2, 2022: Orphanet Journal of Rare Diseases
#38
JOURNAL ARTICLE
Weiwei Li, Ting Lei, Xiaoyu Song, Chun Deng, Jingrun Lu, Wenwu Zhang, Zhenzhan Kuang, Yongyin He, Quan Zhou, Zhaoxun Luo, Fei Mo, Hanlin Yang, Jianfeng Hang, Bin Xiao, Linhai Li
The E3 ubiquitin ligase is an important regulator of cell signaling and proteostasis and is tightly controlled in many diseases, including cancer. Our study aimed to investigate the biological role of the E3 ubiquitin ligase CBLC in breast cancer and elucidate the specific mechanistic network underlying CBLC-mediated target substrate degradation, cell proliferation and metastasis. Here, we showed that CBLC expression was higher in breast cancer tissues and cells than that in normal tissues and cells. Higher expression of CBLC predicted a better prognosis for breast cancer patients...
August 31, 2022: Journal of Receptor and Signal Transduction Research
#39
JOURNAL ARTICLE
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020. For this survey, we collected data from 15 Italian screening laboratories, focusing on the metabolic disorders identified by tandem mass spectrometry (MS/MS) based analysis between January 2019 and December 2020...
August 9, 2022: International Journal of Neonatal Screening
#40
Tu Juan, Chen Chao-Ying, Li Hua-Rong, Wan Ling
Background: Methylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs. However, cases of coronary artery ectasia have been rarely reported. Case presentation: Here, we report the case of a 4-year-old girl who was hospitalized mainly because of pallor, brown urine, and fatigue, followed by hypertension, renal insufficiency, hemolytic anemia, cardiac enlargement, cardiac insufficiency, and coronary artery ectasia...
2022: Frontiers in Pediatrics
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