New insights into the pathophysiology of methylmalonic acidemia
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12617
Abstract: Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. Treatment options are limited and non‐curative as the underlying causative molecular mechanisms remain unknown. While… read more here.
Keywords: pathophysiology methylmalonic; methylmalonic acidemia; acidemia; insights pathophysiology ... See more keywords
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Sign Up to like & getrecommendations! Published in 2022 at "Metabolic brain disease"
DOI: 10.1007/s11011-022-00954-1
Abstract: Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychological deficits. "Isolated" MMA refers to the presence… read more here.
Keywords: methylmalonic acidemia; isolated methylmalonic; review neuropsychological; neuropsychological outcomes ... See more keywords
Acidemia subtypes in critically ill patients: An international cohort study.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of critical care"
DOI: 10.1016/j.jcrc.2021.02.006
Abstract: PURPOSE To study the prevalence, characteristic, outcome, and acid-base biomarker predictors of outcome for different acidemia subtypes. METHODS We used national intensive care databases from three countries and classified acidemia subtypes as metabolic (standard base… read more here.
Keywords: study; mortality; base; respiratory ... See more keywords
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.05.003
Abstract: Propionic acidemia (PA) and methylmalonic acidemia (MMA) are autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, which are caused by a deficiency in the enzyme propionyl-CoA carboxylase or the enzyme methylmalonyl-CoA (MM-CoA) mutase, respectively. The functional… read more here.
Keywords: primary hepatocytes; coa coa; coa; tca cycle ... See more keywords
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100806
Abstract: Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in… read more here.
Keywords: thyrotoxicosis; novel mutation; causing propionic; propionic acidemia ... See more keywords
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2022.100859
Abstract: With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child… read more here.
Keywords: compound heterozygote; isovaleric acidemia; acid; hyperammonemia ... See more keywords
PERIOPERATIVE MANAGEMENT AND POST-LIVER TRANSPLANTATION OUTCOMES IN METHYLMALONIC ACIDEMIA, PROPIONIC ACIDEMIA AND UREA CYCLE DISORDERS: OUR 20 YEAR EXPERIENCE
Sign Up to like & getrecommendations! Published in 2020 at "Transplantation"
DOI: 10.1097/01.tp.0000701476.97048.84
Abstract: Purpose: To examine long-term outcomes after liver transplantation for organic acidemias and urea cycle defects at our center which utilizes standardized pre-, periand post-operative protocols to minimize morbidity and mortality in this population. Methods: We… read more here.
Keywords: liver transplantation; transplantation; urea cycle; post ... See more keywords
Inconsistency between lactate meters in the assessment of fetal metabolic acidemia
Sign Up to like & getrecommendations! Published in 2021 at "Acta Obstetricia et Gynecologica Scandinavica"
DOI: 10.1111/aogs.14140
Abstract: In recent years there has been increasing interest in the measurement of lactate as one component in the assessment of metabolic status. Lactate concentration is an end metabolite of anaerobic metabolism, and is therefore elevated… read more here.
Keywords: scalp blood; lactate concentration; lactate; metabolic acidemia ... See more keywords
Comparison of Four Intrapartum Cardiotocography Classifications for Predicting Neonatal Acidemia at Birth
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pregnancy"
DOI: 10.1155/2023/5853889
Abstract: Objective To compare diagnostic values of four intrapartum cardiotocography (CTG) classifications in predicting neonatal acidemia at birth. Methods Retrospective case-control study. Forty-three CTG traces with an umbilical artery pH < 7.00 (study group) and 43… read more here.
Keywords: acidemia birth; acidemia; classifications predicting; intrapartum ... See more keywords
Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?
Sign Up to like & getrecommendations! Published in 2023 at "Indian Journal of Psychological Medicine"
DOI: 10.1177/02537176231159916
Abstract: The patient showed rapid improvement in her activities of daily living and communication. She regained the ability to feed independently and, following physiotherapy, could walk with aid. She maintained well for two months. However, after… read more here.
Keywords: rett syndrome; syndrome atypical; methylmalonic acidemia; acidemia ... See more keywords
Association of Acidemia With Short-Term Mortality of Acute Myocardial Infarction: A Retrospective Study Base on MIMIC-III Database
Sign Up to like & getrecommendations! Published in 2020 at "Clinical and Applied Thrombosis/Hemostasis"
DOI: 10.1177/1076029620950837
Abstract: Acute myocardial infarction (AMI) is a leading cause of death and not a few of these patients are combined with acidemia. This study aimed to detect the association of acidemia with short-term mortality of AMI… read more here.
Keywords: acidemia patients; mortality; day mortality; acute myocardial ... See more keywords