keyword
MENU ▼
Read by QxMD icon Read
search

Methylmalonic Acid

keyword
https://www.readbyqxmd.com/read/29886603/-heterogeneous-phenotypes-genotypes-treatment-and-prevention-of-1-003-patients-with-methylmalonic-acidemia-in-the-mainland-of-china
#1
Y Liu, Y P Liu, Y Zhang, J Q Song, H Zheng, H Dong, Y Y Ma, T F Wu, Q Wang, X Y Li, Y Ding, D X Li, Y Jin, M Q Li, Z X Wang, Y Yuan, H X Li, J Qin, Y L Yang
Objective: To analyz the current situation of the diagnosis, treatment and prevention of methylmalonic acidemia, the phenotypes, biochemical features and genotypes of the patients in the mainland of China, were investigated. Methods: Tottally 1 003 patients of methylmalonic acidemia from 26 provinces and municipalities of the mainland of China were enrolled. The clinical data, biochemical features and gene mutations were studied. Blood aminoacids and acylcarnitines, urine organic acids, and plasma total homocysteine were determined for the biochemical diagnosis...
June 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29874929/improved-testing-for-vitamin-b-12-deficiency-correcting-mma-for-egfr-reduces-the-number-of-patients-classified-as-vitamin-b-12-deficient
#2
Saskia Lm van Loon, Anna M Wilbik, Uzay Kaymak, Edwin R van den Heuvel, Volkher Scharnhorst, Arjen-Kars Boer
Background Methylmalonic acid (MMA) can detect functional vitamin B12 deficiencies as it accumulates early when intracellular deficits arise. However, impaired clearance of MMA from blood due to decreased glomerular filtration rate (eGFR) also results in elevated plasma MMA concentrations. Alternative to clinical trials, a data mining approach was chosen to quantify and compensate for the effect of decreased eGFR on MMA concentration. Methods Comprehensive data on patient's vitamin B12 , eGFR and MMA concentrations were collected ( n = 2906)...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29859645/vitamin-b-12-deficiency-induced-neuropathy-secondary-to-prolonged-recreational-use-of-nitrous-oxide
#3
William Egan, Eric Steinberg, Jeremy Rose
A 24-year-old female, otherwise healthy, presented to the Emergency Department (ED) with difficulty walking and bilateral leg pain. The patient was a recreational nitrous oxide (NO2 ) user, also known as "whippets" or simply nitrous. Neurologic examination demonstrated an unsteady gait and positive Romberg sign along with normal deep tendon reflexes and normal muscle strength in upper and lower extremities. Laboratory results demonstrated macrocytic erythropoiesis, reduced B12 , elevated homocysteine, and elevated methylmalonic acid...
May 24, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29858964/combined-malonic-and-methylmalonic-aciduria-due-to-acsf3-mutations-benign-clinical-course-in-an-unselected-cohort
#4
Alina Levtova, Paula J Waters, Daniela Buhas, Sébastien Lévesque, Christiane Auray-Blais, Joe T R Clarke, Rachel Laframboise, Bruno Maranda, Grant A Mitchell, Catherine Brunel-Guitton, Nancy E Braverman
BACKGROUND: The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints. METHODS: Using a cross-sectional multicenter retrospective natural history study, we describe the course of all known CMAMMA individuals in the province of Quebec. RESULTS: We identified 25 CMAMMA patients (6 months to 30 years old) with a favorable outcome regardless of treatment...
June 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29845181/novel-protein-lipid-composite-nanoparticles-with-an-inner-aqueous-compartment-as-delivery-systems-of-hydrophilic-nutraceutical-compounds
#5
Guangyu Liu, Weijuan Huang, Oksana Babii, Xiaoyu Gong, Zhigang Tian, Jingqi Yang, Yixiang Wang, René L Jacobs, Vine Donna, Afsaneh Lavasanifar, Lingyun Chen
Food protein and lipid based nanoparticles have attracted recent interest as a means of delivering nutraceuticals. Nanoparticle encapsulation of nutraceuticals faces challenges to overcome for it to be readily applied in the food industry, such as low encapsulation efficiency for hydrophilic compounds and poor stability once in the gastrointestinal tract. This research introduces a new protein-lipid composite nanoparticle with a three-layered structure (a barley protein layer, α-tocopherol layer and phospholipid layer) and an inner aqueous compartment to load hydrophilic nutraceuticals...
May 30, 2018: Nanoscale
https://www.readbyqxmd.com/read/29808036/diagnostic-dilemma-of-patients-with-methylmalonic-aciduria-experience-from-a-tertiary-care-centre-in-pakistan
#6
Hafsa Majid, Lena Jafri, Aysha Habib Khan, Zeba Zulfiqar Ali, Azeema Jamil, Nasir Yusufzai, Midhat Fatimah, Bushra Afroze
OBJECTIVE: To determine the frequency of disorders leading to methylmalonic acidurias. METHODS: This cross-sectional study was conducted from January 2013 to April 2016 at the Aga Khan University Hospital, Karachi, and comprised patients diagnosed with methylmalonic acidurias based on urine organic acid analysis. Clinical history and biochemical data was collected from the biochemical genetics laboratory requisition forms. Organic acid chromatograms of all the subjects were critically reviewed by a biochemical pathologist and a metabolic physician...
April 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29783689/cobalamin-and-folate-status-among-breastfed-infants-in-bhaktapur-nepal
#7
Ram K Chandyo, Manjeswori Ulak, Ingrid Kvestad, Mari Hysing, Merina Shrestha, Suman Ranjitkar, Arve Ulvik, Per Magne Ueland, Laxman Shrestha, Tor A Strand
Cobalamin and folate are crucial micronutrients during infancy and they are required for growth and cognitive development. Due to the monotonous and predominantly vegetarian-based complementary feeding and poor maternal micronutrient status, infants from low- and middle-income countries are susceptible to cobalamin deficiency. However, data on plasma cobalamin and folate and the functional markers methylmalonic acid and total homocysteine from breastfed infants in Nepal are still needed. We collected plasma samples from 316 6⁻11-month-old breastfed infants with a length-for-age of less than minus one z -score and analyzed blood for plasma folate, cobalamin, methylmalonic acid and total homocysteine concentrations...
May 18, 2018: Nutrients
https://www.readbyqxmd.com/read/29620684/neutropenia-and-increased-mean-corpuscular-volume-mcv-with-abnormal-neurological-findings-a-case-of-cobalamin-d-deficiency
#8
Pembe Soylu Ustkoyuncu, Mustafa Kendirci, Fatih Kardas, Songul Gokay, Huseyin Per, Ayse Kacar Bayram
BACKGROUND: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings. CLINICAL OBSERVATION: An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p...
April 3, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29572946/prospective-long-term-evaluation-of-parenteral-hydroxocobalamin-supplementation-in-juvenile-beagles-with-selective-intestinal-cobalamin-malabsorption-imerslund-gr%C3%A3-sbeck-syndrome
#9
Peter Hendrik Kook, C E Reusch, M Hersberger
BACKGROUND: Prospective studies on maintenance treatment for Beagles with hereditary selective cobalamin (Cbl) malabsorption (Imerslund-Gräsbeck syndrome, IGS) are lacking. In our experience, measurement of methylmalonic acid (MMA), a Cbl-dependent metabolite, seems more helpful to monitor Cbl status as compared with serum Cbl concentrations. OBJECTIVES: To evaluate a standardized Cbl supplementation scheme in Beagles with IGS. We hypothesized that a single parenteral dose of 1 mg hydroxocobalamin (OH-Cbl) would maintain clinical and metabolic remission for up to 2 months...
March 23, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29558000/hemolytic-uremic-syndrome-with-dual-caution-in-an-infant-cobalamin-c-defect-and-complement-dysregulation-successfully-treated-with-eculizumab
#10
Ulkem Kocoglu Barlas, Hasan Serdar Kıhtır, Nilufer Goknar, Melike Ersoy, Nihal Akcay, Esra Sevketoglu
BACKGROUND: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS. CASE-DIAGNOSIS/TREATMENT: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury...
June 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29543316/oral-vitamin-b-12-versus-intramuscular-vitamin-b-12-for-vitamin-b-12-deficiency
#11
REVIEW
Haiyan Wang, Linyi Li, Ling Ling Qin, Yanan Song, Josep Vidal-Alaball, Tong Hua Liu
BACKGROUND: Vitamin B12 deficiency is common, and the incidence increases with age. Most people with vitamin B12 deficiency are treated in primary care with intramuscular (IM) vitamin B12 . Doctors may not be prescribing oral vitamin B12 formulations because they may be unaware of this option or have concerns regarding its effectiveness. OBJECTIVES: To assess the effects of oral vitamin B12 versus intramuscular vitamin B12 for vitamin B12 deficiency. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, and LILACS, as well as the WHO ICTRP and ClinicalTrials...
March 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29534543/validation-of-a-dietary-screening-tool-in-a-middle-aged-appalachian-population
#12
Melissa Ventura Marra, Sowmyanarayanan V Thuppal, Elizabeth J Johnson, Regan L Bailey
Proactive nutrition screening is an effective public health strategy for identifying and targeting individuals who could benefit from making dietary improvements for primary and secondary prevention of disease. The Dietary Screening Tool (DST) was developed and validated to assess nutritional risk among rural older adults. The purpose of this study was to evaluate the utility and validity of the DST to identify nutritional risk in middle-aged adults. This cross-sectional study in middle-aged adults (45-64 year olds, n = 87) who reside in Appalachia, examined nutritional status using an online health survey, biochemical measures, anthropometry, and three representative 24-h dietary recalls...
March 12, 2018: Nutrients
https://www.readbyqxmd.com/read/29529156/early-pregnancy-folate-cobalamin-interactions-and-their-effects-on-cobalamin-status-and-hematologic-variables-throughout-pregnancy
#13
Pol Solé-Navais, Judith Salat-Batlle, Pere Cavallé-Busquets, Joan Fernandez-Ballart, Per M Ueland, Mónica Ballesteros, Gemma Ornosa-Martín, Montserrat Inglès-Puig, Jose M Colomina, Michelle M Murphy
Background: Periconception folic acid supplementation is widespread, but how it interacts with cobalamin status is rarely considered. Objective: The aim of this study was to investigate whether first-trimester folate-cobalamin interactions affect pregnancy cobalamin status, hematologic variables, and pregnancy outcomes. Design: In the longitudinal Reus-Tarragona Birth Cohort study from <12 gestational weeks throughout pregnancy, fasting plasma and red blood cell (RBC) folate, plasma cobalamin, holotranscobalamin (holoTC), methylmalonic acid (MMA), total homocysteine (tHcy), hemoglobin, mean cell volume (MCV), postglucose-load serum glucose, gestational hypertension, gestational age at birth, and birth weight were recorded in 563 participants...
February 1, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29510241/a-male-case-with-cdkl5-associated-encephalopathy-manifesting-transient-methylmalonic-acidemia
#14
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/29508904/vitamin-b12-and-homocysteine-levels-predict-different-outcomes-in-early-parkinson-s-disease
#15
Chadwick W Christine, Peggy Auinger, Amelia Joslin, Yuora Yelpaala, Ralph Green
BACKGROUND: In moderately advanced Parkinson's disease (PD), low serum vitamin B12 levels are common and are associated with neuropathy and cognitive impairment. However, little is known about B12 in early PD. OBJECTIVE: To determine the prevalence of low vitamin B12 status in early PD and whether it is associated with clinical progression. METHODS: We measured vitamin B12 and other B12 status determinants (methylmalonic acid, homocysteine, and holotranscobalamin) in 680 baseline and 456 follow-up serum samples collected from DATATOP participants with early, untreated PD...
March 6, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29506877/early-changes-in-vitamin-b12-uptake-and-biomarker-status-following-roux-en-y-gastric-bypass-and-sleeve-gastrectomy
#16
L S Kornerup, C L Hvas, C B Abild, B Richelsen, E Nexo
BACKGROUND & AIMS: Bariatric surgery increases the risk of micronutrient deficiencies, including vitamin B12 (B12) deficiency. We analysed early changes in biomarkers of B12 status following bariatric surgery. METHODS: We prospectively included adult patients (n = 27) referred for either Roux-en-Y Gastric Bypass (RYGB) (n = 19) or Sleeve Gastrectomy (SG) (n = 8). Blood samples were drawn before surgery and 2 and 6 months following surgery for measurement of B12, holotranscobalamin (holoTC), and methylmalonic acid (MMA)...
February 15, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29499976/effect-of-two-different-sublingual-dosages-of-vitamin-b-12-on-cobalamin-nutritional-status-in-vegans-and-vegetarians-with-a-marginal-deficiency-a-randomized-controlled-trial
#17
Cristian Del Bo', Patrizia Riso, Claudio Gardana, Antonella Brusamolino, Alberto Battezzati, Salvatore Ciappellano
BACKGROUND & AIMS: Vegetarians and vegans are more vulnerable to vitamin B12 deficiency with severe risks of megaloblastic anemia, cognitive decline, neuropathy, and depression. An easy and simple method of supplementation consists of taking one weekly dosage of 2000 μg. However, single large oral doses of vitamin B12 are poorly absorbed. The present research evaluates the ability of two different sublingual dosages of vitamin B12 (350 μg/week vs 2000 μg/week) in improving cyanocobalamin (vitamin B12 ) nutritional status in vegans and vegetarians with a marginal deficiency...
February 15, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29433791/long-term-liver-disease-in-methylmalonic-and-propionic-acidemias
#18
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
#19
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/29336047/acrodermatitis-acidaemica
#20
C A Maguire, H Chong, R Ramachandran, J Popoola, V Akhras, M Singh
Methylmalonic acidaemia (MMA) is an inborn error of amino acid metabolism that may be associated with cutaneous manifestations mimicking other diagnoses, including staphylococcal scalded skin syndrome (SSSS), psoriasis and acrodermatitis enteropathica. Whether this is due to the underlying metabolic disorder itself or occurs as a consequence of dietary restriction has yet to be elucidated. Skin biopsies typically show histological features shared by a number of other metabolic disorders and nutritional deficiency-associated diseases...
April 2018: Clinical and Experimental Dermatology
keyword
keyword
115012
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"