keyword
MENU ▼
Read by QxMD icon Read
search

methylmalonic acidemia

keyword
https://www.readbyqxmd.com/read/29731766/expanded-newborn-screening-for-inborn-errors-of-metabolism-and-genetic-characteristics-in-a-chinese-population
#1
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29660608/generation-and-characterization-of-two-human-ipsc-lines-from-patients-with-methylmalonic-acidemia-cblb-type
#2
E Richard, S Brasil, A Briso-Montiano, E Alonso-Barroso, M E Gallardo, B Merinero, M Ugarte, L R Desviat, B Pérez
Two human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of two siblings with methylmalonic acidemia cblB type carrying mutations in the MMAB gene: c.287T➔C (p.Ile96Thr) and a splicing loss-of-function variant c.584G➔A affecting the last nucleotide of exon 7 in MMAB (p.Ser174Cysfs*23). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability...
April 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29581464/whole-exome-sequencing-helps-the-diagnosis-and-treatment-in-children-with-neurodevelopmental-delay-accompanied-unexplained-dyspnea
#3
Wenjia Tong, Yajian Wang, Yun Lu, Tongsheng Ye, Conglei Song, Yuanyuan Xu, Min Li, Jie Ding, Yuanyuan Duan, Le Zhang, Weiyue Gu, Xiaoling Zhao, Xiu-An Yang, Danqun Jin
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMACHC, G6PC, G6PT, ETFDH, OTC, NDUFAF5, SLC22A5, and MAGEL2 were suspected to be responsible for the onset of the clinical symptoms and 6 variants were novel...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29542068/high-risk-stratified-neonatal-screening
#4
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29510241/a-male-case-with-cdkl5-associated-encephalopathy-manifesting-transient-methylmalonic-acidemia
#5
Satoshi Akamine, Yoshito Ishizaki, Yasunari Sakai, Hiroyuki Torisu, Ryoko Fukai, Noriko Miyake, Kazuhiro Ohkubo, Hiroshi Koga, Masafumi Sanefuji, Ayumi Sakata, Masahiko Kimura, Seiji Yamaguchi, Osamu Sakamoto, Toshiro Hara, Hirotomo Saitsu, Naomichi Matsumoto, Shouichi Ohga
Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine...
March 3, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29488077/shunt-surgery-for-early-onset-severe-hydrocephalus-in-methylmalonic-acidemia-report-on-two-cases-and-review-of-the-literature
#6
Minglei Ma, Mingxing Wu, Yanbin Li, Di Wu, Bingke Zhang
OBJECT: Methylmalonic acidemia (MMA) with early-onset severe hydrocephalus is rare. In this paper, we described two cases of MMA with hydrocephalus and review the literature to elucidate the clinical features of the disease, treatment options, and follow-up results. METHODS: The PubMed and Embase databases were searched for clinical reports on MMA with severe hydrocephalus, and two unreported cases were presented to illustrate the clinical spectrum. RESULTS: Six cases of MMA with severe hydrocephalus were observed in the previous literature...
February 27, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#7
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29433791/long-term-liver-disease-in-methylmalonic-and-propionic-acidemias
#8
Apolline Imbard, Nuria Garcia Segarra, Marine Tardieu, Pierre Broué, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Abdelhamid Slama, Charlotte Mussini, Guy Touati, Marie Danjoux, Pauline Gaignard, Hannes Vogel, François Labarthe, Manuel Schiff, Jean-François Benoist
BACKGROUND AND OBJECTIVES: Patients affected with methylmalonic acidemia (MMA) and propionic acidemia (PA) exhibit diverse long-term complications and poor outcome. Liver disease is not a reported complication. The aim of this study was to characterize and extensively evaluate long-term liver involvement in MMA and PA patients. PATIENTS AND METHODS: We first describe four patients who had severe liver involvement during the course of their disease. Histology showed fibrosis and/or cirrhosis in 3 patients...
April 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29374341/late-onset-cobalamin-c-deficiency-chinese-sibling-patients-with-neuropsychiatric-presentations
#9
Sheng-Jun Wang, Chuan-Zhu Yan, Yi-Ming Liu, Yu-Ying Zhao
The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with neuropsychiatric presentations. The clinical data of four pairs of Chinese patients were retrospectively analyzed. Serum homocysteine, urine organic acids measurements, neuroimaging exams and gene analysis were carried out in all patents...
January 26, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29330964/spectrum-of-bone-marrow-pathology-and-hematological-abnormalities-in-methylmalonic-acidemia
#10
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed, Mohammed Al-Owain, Raashda A Sulaiman
Patients with isolated methylmalonic acidemia (MMA) may present with a wide range of hematological complications including anemia, leukopenia, thrombocytopenia, and pancytopenia. However, there are very limited data on the development of hemophagocytosis or myelodysplasia in these patients. We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. Their bone marrow examination revealed a wide spectrum of pathology varying from bone marrow hypoplasia, hemophagocytosis to myelodysplasia with ring sideroblasts...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29262333/systemic-messenger-rna-therapy-as-a-treatment-for-methylmalonic-acidemia
#11
Ding An, Jessica L Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E Murphy-Benenato, E Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M Lukacs, Randy J Chandler, Lin T Guey, Charles P Venditti, Paolo G V Martini
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although promising, AAV gene therapy can be limited by pre-existing immunity and has been associated with genotoxicity in mice. To develop a new class of therapy for MMA, we generated a pseudoU-modified codon-optimized mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most frequently mutated in MMA, and encapsulated it into biodegradable lipid nanoparticles (LNPs)...
December 19, 2017: Cell Reports
https://www.readbyqxmd.com/read/29237523/-clinical-analysis-of-15-851-children-at-risk-of-inherited-metabolic-diseases
#12
Shu-Xiang Lin, Jian-Bo Shu, Chao Wang, Rui Pan, Ying-Tao Meng, Chun-Hua Zhang, Bi-Li Zhang, Dan Wang, Yu-Qin Zhang
OBJECTIVE: To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. METHODS: The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. RESULTS: In the 15 851 children, 5 793 (36...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29158924/methylmalonic-acidemia-with-novel-mut-gene-mutations
#13
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29068997/atypical-hemolytic-uremic-syndrome-induced-by-cblc-subtype-of-methylmalonic-academia-a-case-report-and-literature-review
#14
REVIEW
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29042959/diagnosis-of-cobalamin-c-deficiency-with-renal-abnormality-from-onset-in-a-chinese-child-by-next-generation-sequencing-a-case-report
#15
Qiuxia Chen, Huaying Bao, Hongmei Wu, Sanlong Zhao, Songming Huang, Fei Zhao
The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Children's Hospital of Nanjing Medical University (Nanjing, China). A routine clinical examination was performed, including physical examination, routine blood and urine tests, blood gas analysis, computed tomography scans of the head, chest and abdomen, electrocardiogram, echocardiography and abdominal ultrasonography...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29035969/effects-of-medical-food-leucine-content-in-the-management-of-methylmalonic-and-propionic-acidemias
#16
Jennifer G Myles, Irini Manoli, Charles P Venditti
PURPOSE OF REVIEW: The current review highlights the varied effects of medical foods high in leucine (Leu) and devoid of valine (Val) and isoleucine (Ile) in the management of methylmalonic acidemia (MMA) and propionic acidemia and cobalamin C (cblC) deficiency, aiming to advance dietary practices. RECENT FINDINGS: Leu is a key metabolic regulator with a multitude of effects on different organ systems. Recent observational studies have demonstrated that these effects can have unintended consequences in patients with MMA as a result of liberal use of medical foods...
January 2018: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/28915261/simultaneous-determination-of-3-hydroxypropionic-acid-methylmalonic-acid-and-methylcitric-acid-in-dried-blood-spots-second-tier-lc-ms-ms-assay-for-newborn-screening-of-propionic-acidemia-methylmalonic-acidemias-and-combined-remethylation-disorders
#17
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test)...
2017: PloS One
https://www.readbyqxmd.com/read/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#18
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28629683/the-relationship-between-dietary-intake-growth-and-body-composition-in-inborn-errors-of-intermediary-protein-metabolism
#19
Maureen Evans, Helen Truby, Avihu Boneh
OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28395089/methylmalonate-induces-inflammatory-and-apoptotic-potential-a-link-to-glial-activation-and-neurological-dysfunction
#20
Patricia Gabbi, Leandro Rodrigo Ribeiro, Gutierres Jessié Martins, Alexandra Seide Cardoso, Fernanda Haupental, Fernanda Silva Rodrigues, Alencar Kolinski Machado, Juliana Sperotto Brum, M M Medeiros Frescura Duarte, Maria Rosa Chitolina Schetinger, Ivana Beatrice Mânica da Cruz, Ana Flávia Furian, Mauro Schneider Oliveira, Adair Roberto Soares Dos Santos, Luiz Fernando Freire Royes, Michele Rechia Fighera, Mayara Lutchemeyer de Freitas
Methylmalonic acid (MMA) accumulates in tissues in methylmalonic acidemia, a heterogeneous group of inherited childhood diseases characterized by neurological dysfunction, oxidative stress and neuroinflammation; it is associated with degeneration of striatal neurons and cerebral cortical atrophy. It is presently unknown, however, whether transient exposure to MMA in the neonatal period is sufficient to trigger inflammatory and apoptotic processes that lead to brain structural damage. Here, newborn mice were given a single intracerebroventricular dose of MMA at 12 hours after birth...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
keyword
keyword
100199
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"