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Journal of Inherited Metabolic Disease

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https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#1
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29139026/structural-elucidation-of-novel-biomarkers-of-known-metabolic-disorders-based-on-multistage-fragmentation-mass-spectra
#2
Jan Václavík, Karlien L M Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F H Engelke, Annemiek van Wegberg, Leo A J Kluijtmans, Tomáš Adam, Ron A Wevers
Specific diagnostic markers are the key to effective diagnosis and treatment of inborn errors of metabolism (IEM). Untargeted metabolomics allows for the identification of potential novel diagnostic biomarkers. Current separation techniques coupled to high-resolution mass spectrometry provide a powerful tool for structural elucidation of unknown compounds in complex biological matrices. This is a proof-of-concept study testing this methodology to determine the molecular structure of as yet uncharacterized m/z signals that were significantly increased in plasma samples from patients with phenylketonuria and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29139025/coagulopathy-in-zellweger-spectrum-disorders-a-role-for-vitamin-k
#3
Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, Monique H Suijker, Marc Engelen, Bwee Tien Poll-The, C Heleen van Ommen
INTRODUCTION: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range of symptoms, including hepatic dysfunction and coagulopathy. This study evaluated the incidence and severity of coagulopathy and the effect of vitamin K supplementation orally and IV in ZSD. METHODS: Data were retrospectively retrieved from the medical records of 30 ZSD patients to study coagulopathy and the effect of vitamin K orally on proteins induced by vitamin K absence (PIVKA-II) levels...
November 14, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29110180/correlation-between-the-molecular-effects-of-mutations-at-the-dimer-interface-of-alanine-glyoxylate-aminotransferase-leading-to-primary-hyperoxaluria-type-i-and-the-cellular-response-to-vitamin-b6
#4
Mirco Dindo, Elisa Oppici, Daniele Dell'Orco, Rosa Montone, Barbara Cellini
Primary hyperoxaluria type I (PH1) is a rare disease caused by the deficit of liver alanine-glyoxylate aminotransferase (AGT). AGT prevents oxalate formation by converting peroxisomal glyoxylate to glycine. When the enzyme is deficient, progressive calcium oxalate stones deposit first in the urinary tract and then at the systemic level. Pyridoxal 5'-phosphate (PLP), the AGT coenzyme, exerts a chaperone role by promoting dimerization, as demonstrated by studies at protein and cellular level. Thus, variants showing a destabilized dimeric structure should, in principle, be responsive to vitamin B6, a precursor of PLP...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29110179/a-double-blind-placebo-controlled-trial-of-triheptanoin-in-adult-polyglucosan-body-disease-and-open-label-long-term-outcome
#5
Raphael Schiffmann, Mary E Wallace, Daisy Rinaldi, Isabelle Ledoux, Marie-Pierre Luton, Scott Coleman, H Orhan Akman, Karine Martin, Jean-Yves Hogrel, Derek Blankenship, Jacob Turner, Fanny Mochel
BACKGROUND: Adult polyglucosan body disease (APBD) is a progressive neurometabolic disorder caused by a deficiency of glycogen branching enzyme. We tested the efficacy of triheptanoin as a therapy for patients with APBD based on the hypothesis that decreased glycogen degradation leads to brain energy deficit. METHODS AND RESULTS: This was a two-site, randomized crossover trial of 23 patients (age 35-73 years; 63% men) who received triheptanoin or vegetable oil as placebo...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29110178/priapism-in-a-fabry-disease-mouse-model-is-associated-with-upregulated-penile-nnos-and-enos-expression
#6
Xing-Li Meng, Erland Arning, Mary Wight-Carter, Taniqua S Day, Siamak Jabbarzadeh-Tabrizi, Shuyuan Chen, Robin J Ziegler, Teodoro Bottiglieri, Jay W Schneider, Seng H Cheng, Raphael Schiffmann, Jin-Song Shen
Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis. The goal of this study was to investigate the pathogenesis of Fabry disease-associated priapism in a mouse model of the disease. We found that Fabry mice develop late-onset priapism. Neuronal nitric oxide synthase (nNOS), which was predominantly present as the 120-kDa N-terminus-truncated form, was significantly upregulated in the penis of 18-month-old Fabry mice compared to wild type controls (~fivefold)...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29110177/role-of-protein-carbonylation-in-diabetes
#7
Markus Hecker, Andreas H Wagner
Diabetes mellitus is a metabolic disease characterized by, among others, elevated blood glucose levels. Hyperglycaemia as well as enhanced levels of glucose-derived reactive metabolites contribute to the development of diabetic complications partly via increased generation of reactive oxygen species (ROS). ROS are not only part of signaling pathways themselves but also lead to carbonylation of particular amino acid side chains by direct metal-catalyzed oxidation. In addition, carbonyl groups can be introduced into proteins indirectly by non-oxidative covalent adduction of reactive carbonyl species generated by the oxidation of lipids or carbohydrates...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29110176/avascular-necrosis-after-long-term-glucocorticoid-treatment-in-melas-a-cautionary-note
#8
Han Som Choi, Jae Hyun Lee, Sun Ho Lee, Young-Mock Lee
No abstract text is available yet for this article.
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29098535/skin-lesions-in-a-patient-with-cobalamin-c-disease-in-poor-metabolic-control
#9
Pankaj Prasun, Cristel Chapel-Crespo, Amy Williamson, Paul Chu, Kimihiko Oishi, George Diaz
No abstract text is available yet for this article.
November 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29098534/impairment-of-astrocytic-glutaminolysis-in-glutaric-aciduria-type-i
#10
Shoko Komatsuzaki, Raga Deepthi Ediga, Jürgen G Okun, Stefan Kölker, Sven W Sauer
Glutaric aciduria type I is a rare, autosomal recessive, inherited defect of glutaryl-CoA dehydrogenase. Deficiency of this protein in L-lysine degradation leads to the characteristic accumulation of nontoxic glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA, and 3-hydroxyglutaric acid. Untreated patients develop bilateral lesions of basal ganglia resulting in a complex movement disorder with predominant dystonia in infancy and early childhood. The current pathomechanistic concept strongly focuses on imbalanced neuronal energy metabolism due to accumulating metabolites, whereas little is known about the pathomechanistic role of astrocytes, which are thought to be in constant metabolic crosstalk with neurons...
November 2, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29080035/the-curse-of-idiopathic
#11
LETTER
Kevin J O'Brien, William A Gahl, Bernadette R Gochuico
No abstract text is available yet for this article.
October 27, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29039131/phenotype-disease-severity-and-pain-are-major-determinants-of-quality-of-life-in-fabry-disease-results-from-a-large-multicenter-cohort-study
#12
Maarten Arends, Simon Körver, Derralynn A Hughes, Atul Mehta, Carla E M Hollak, Marieke Biegstraaten
Quality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect of pain (measured by the Brief Pain Inventory), phenotype, treatment, and FD-related complications on QoL. QoL data of Fabry patients as assessed by the EuroQol five dimension questionnaire (EQ-5D) from two international centers of excellence were collected. The aim of this study was to evaluate the effect of sex, phenotype, age, different states of disease severity, pain, and ERT on EQ-5D utilities...
October 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29027597/lipoprotein-associated-phospholipase-a2-activity-in-obese-adolescents-with-and-without-type-2-diabetes
#13
Julia Seyfarth, Thomas Reinehr, Annika Hoyer, Christina Reinauer, Christina Bächle, Beate Karges, Ertan Mayatepek, Michael Roden, Sabine E Hofer, Susanna Wiegand, Joachim Woelfle, Wieland Kiess, Joachim Rosenbauer, Reinhard W Holl, Thomas Meissner
Lipoprotein-associated phospholipase A2 (Lp-PLA2) was identified as a strong predictor for cardiovascular events. Furthermore, it is highly associated with obesity. The role of Lp-PLA2 in diabetes mellitus is controversial and analyses, especially in adolescents with type 2 diabetes (T2D), are missing. Therefore, we compared Lp-PLA2 activity between two obese age-, sex-, and BMI-matched cohorts of adolescents with and without T2D. Relationships between Lp-PLA2 activity and age, BMI, hemoglobin A1c, lipids, and adipokines were evaluated...
October 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29027595/carnosinase-diabetes-mellitus-and-the-potential-relevance-of-carnosinase-deficiency
#14
REVIEW
Verena Peters, Johannes Zschocke, Claus P Schmitt
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine. Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical symptoms in these individuals is causally related to carnosinase deficiency. Reduced CN1 function should increase serum carnosine concentrations but the genetic basis of carnosinaemia has not been formally confirmed to be due to CNDP1 mutations...
October 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29027067/human-heterologous-liver-cells-transiently-improve-hyperammonemia-and-ureagenesis-in-individuals-with-severe-urea-cycle-disorders
#15
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, Andrea Schlune, Jens-Peter Schenk, Jan Schmidt, Jürgen Weitz, Jürgen Okun, Friederike Bürger, Tawfeg Ben Omran, Ghassan Abdoh, Hilal Al Rifai, Ahmad Monavari, Vassiliki Konstantopoulou, Stefan Kölker, Marc Yudkoff, Georg F Hoffmann
BACKGROUND: Urea cycle disorders (UCDs) still have a poor prognosis despite several therapeutic advancements. As liver transplantation can provide a cure, liver cell therapy (LCT) might be a new therapeutic option in these patients. METHODS: Twelve patients with severe UCDs were included in this prospective clinical trial. Patients received up to six infusions of cryopreserved human heterologous liver cells via a surgically placed catheter in the portal vein. Portal vein pressure, portal vein flow, and vital signs were monitored continuously...
October 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28980269/erratum-to-common-data-elements-for-clinical-research-in-mitochondrial-disease-a-national-institute-for-neurological-disorders-and-stroke-project
#16
Amel Karaa, Shamima Rahman, Anne Lombès, Patrick Yu-Wai-Man, Muniza K Sheikh, Sherita Alai-Hansen, Bruce H Cohen, David Dimmock, Lisa Emrick, Marni J Falk, Shana McCormack, David Mirsky, Tony Moore, Sumit Parikh, John Shoffner, Tanja Taivassalo, Mark Tarnopolsky, Ingrid Tein, Joanne C Odenkirchen, Amy Goldstein
No abstract text is available yet for this article.
October 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28980096/isolated-aortic-root-dilation-in-homocystinuria
#17
Massimiliano Lorenzini, Nishan Guha, James E Davison, Alex Pitcher, Bejal Pandya, Helena Kemp, Robin Lachmann, Perry M Elliott, Elaine Murphy
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta. METHODS: We conducted a cross-sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z-score ≥ 2.0 SD, and graded mild (Z-score 2.0-3.0), moderate (Z-score 3.01-4.0) and severe (Z-score > 4...
October 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28980090/isolated-sulfite-oxidase-deficiency
#18
Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Marie-Rose Van Hoestenberghe, Jeroen Breckpot, Pieter Vermeersch
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cystine, total homocysteine, uric acid, and oxypurines in urine] and radiological findings (including cerebral/cerebellar atrophy, cystic white matter changes, ventriculomegaly)...
October 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28952135/erratum-to-the-presence-of-anaemia-negatively-influences-survival-in-patients-with-polg-disease
#19
Omar Hikmat, Charalampos Tzoulis, Claus Klingenberg, Magnhild Rasmussen, Chantal M E Tallaksen, Eylert Brodtkorb, Torunn Fiskerstrand, Robert McFarland, Shamima Rahman, Laurence A Bindoff
No abstract text is available yet for this article.
September 26, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28952033/metabolic-pathways-at-the-crossroads-of-diabetes-and-inborn-errors
#20
REVIEW
Eric S Goetzman, Zhenwei Gong, Manuel Schiff, Yan Wang, Radhika H Muzumdar
Research over the past two decades has led to advances in our understanding of the genetic and metabolic factors that underlie the pathogenesis of type 2 diabetes mellitus (T2DM). While T2DM is defined by its hallmark metabolic symptoms, the genetic risk factors for T2DM are more immune-related than metabolism-related, and the observed metabolic disease may be secondary to chronic inflammation. Regardless, these metabolic changes are not benign, as the accumulation of some metabolic intermediates serves to further drive the inflammation and cell stress, eventually leading to insulin resistance and ultimately to T2DM...
September 26, 2017: Journal of Inherited Metabolic Disease
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