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Inborn errors of metabolism

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https://www.readbyqxmd.com/read/27915394/timelines-of-the-free-particle-and-fixed-particle-models-of-stone-formation-theoretical-and-experimental-investigations
#1
REVIEW
D J Kok, W Boellaard, Y Ridwan, V A Levchenko
Two major theories on renal stone formation will be reviewed, the "free-particle" and "fixed-particle" mechanisms. These theories combine data on intrinsic factors (inborn metabolic errors), extrinsic factors (diet), renal cell responses and the physico-chemistry and biochemistry of urine into mechanisms of stone formation. This paper describes the specific role of time in both mechanisms. The timeline of crystal- and stone formation was deducted from literature data and was measured for two stones using radioisotope decay analysis...
December 3, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27915213/case-report-of-cholelithiasis-in-a-patient-with-type-1-gaucher-disease
#2
Afrim Avdaj, Naim Fanaj, Mirsade Osmani, Agron Bytyqi, Anila Cake
INTRODUCTION: Patients with type 1 Gaucher disease have been reported to be more likely to have cholelithiasis. PRESENTATION OF CASE: A case of cholelithiasis in a patient with type 1 Gaucher disease; which is very intriguing to show this comorbidity. The case was the only known case with this pathology in time of diagnosis in our country (Kosovo). The patient is a 21-year old girl a known case of type 1 Gaucher disease, at the age of 8 years. The patient underwent elective laparoscopic cholecystectomy...
November 11, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27912044/mutations-in-prosc-disrupt-cellular-pyridoxal-phosphate-homeostasis-and-cause-vitamin-b6-dependent-epilepsy
#3
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain, Matthew Wilson, Basma El Yacoubi, Emma Footitt, W K Chong, Louise C Wilson, Helen Prunty, Simon Pope, Simon Heales, Karine Lascelles, Mike Champion, Evangeline Wassmer, Pierangelo Veggiotti, Valérie de Crécy-Lagard, Philippa B Mills, Peter T Clayton
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine. Deficiency of PLP in the brain can be caused by inborn errors affecting B6 vitamer metabolism or by inactivation of PLP, which can occur when compounds accumulate as a result of inborn errors of other pathways or when small molecules are ingested...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27906626/advances-in-purine-and-pyrimidine-metabolism-in-health-and-diseases
#4
Michio Hirano, Godefridus J Peters
In June, 2015, the Purine and Pyrimidine Society organized the 16th biennial symposium on Purine and Pyrimidine metabolism at the Faculty House of Columbia University, New York City. This exciting meeting focused on these important molecules, new developments in inborn errors of metabolism; therapeutic analogs. In addition, the biochemistry of mammalian and non-mammalian systems were discussed. Due to significant advances in molecular medicine, the boundaries between clinical and basic sciences have merged into exciting translational research, of which a small portion was highlighted in the presymposium...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#5
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27900964/incidence-of-pediatric-acute-kidney-injury-in-hospitalized-patients
#6
Mohd Ashraf, Naveed Shahzad, Altaf Hussain, Shafat Ahmed Tak, Syed Tariq Ahmed Bukhari, Aliya Kachru
Pediatric acute kidney injury (pAKI) is a common complication associated with high mortality in children. The objective of this study was to determine the incidence of acute kidney injury (AKI) and mortality in hospitalized (critically ill and non-critically ill) patients. This was a retrospective study conducted during the period of June 1, 2013, to May 31, 2014, at the Postgraduate Department of Pediatrics, G. B. Pant Hospital, an Associated Hospital of Government Medical College, Srinagar, Jammu and Kashmir, India...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27898091/restoring-ureagenesis-in-hepatocytes-by-crispr-cas9-mediated-genomic-addition-to-arginase-deficient-induced-pluripotent-stem-cells
#7
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie Ak Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, seizures, spastic diplegia, and sometimes death. Current medical treatments for urea cycle disorders are only marginally effective, and for proximal disorders, liver transplantation is effective but limited by graft availability. Advances in human induced pluripotent stem cell research has allowed for the genetic modification of stem cells for potential cellular replacement therapies...
November 29, 2016: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/27884763/acox2-deficiency-an-inborn-error-of-bile-acid-synthesis-identified-in-an-adolescent-with-persistent-hypertransaminasemia
#8
Maria J Monte, Marta Alonso-Peña, Oscar Briz, Elisa Herraez, Carmen Berasain, Josepmaria Argemi, Jesus Prieto, Jose J G Marin
BACKGROUND: Acyl-CoA oxidase (ACOX2) is involved in the shortening of C27 cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of peroxisomal enzymes involved in bile acid biosynthesis have been described. These conditions are usually characterized by serious hepatic and/or neurologic manifestations. AIMS: We have investigated bile acid profile and enzymes involved in their biosynthesis in the first reported case of ACOX2 deficiency identified in an adolescent boy with persistent unexplained hypertransaminasemia and his family...
November 21, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27884205/whole-genome-sequence-analysis-of-serum-amino-acid-levels
#9
Bing Yu, Paul S de Vries, Ginger A Metcalf, Zhe Wang, Elena V Feofanova, Xiaoming Liu, Donna Marie Muzny, Lynne E Wagenknecht, Richard A Gibbs, Alanna C Morrison, Eric Boerwinkle
BACKGROUND: Blood levels of amino acids are important biomarkers of disease and are influenced by synthesis, protein degradation, and gene-environment interactions. Whole genome sequence analysis of amino acid levels may establish a paradigm for analyzing quantitative risk factors. RESULTS: In a discovery cohort of 1872 African Americans and a replication cohort of 1552 European Americans we sequenced exons and whole genomes and measured serum levels of 70 amino acids...
November 24, 2016: Genome Biology
https://www.readbyqxmd.com/read/27865997/homogentisic-acid-induces-aggregation-and-fibrillation-of-amyloidogenic-proteins
#10
Daniela Braconi, Lia Millucci, Andrea Bernini, Ottavia Spiga, Pietro Lupetti, Barbara Marzocchi, Neri Niccolai, Giulia Bernardini, Annalisa Santucci
BACKGROUND: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Recently, the potential role of hitherto unidentified proteins in the ochronotic process was hypothesized, and the presence of Serum Amyloid A (SAA) in alkaptonuric tissues was reported, allowing the classification of AKU as a novel secondary amyloidosis...
November 16, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#11
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27858262/international-clinical-guideline-for-the-management-of-classical-galactosemia-diagnosis-treatment-and-follow-up
#12
Lindsey Welling, Laurie E Bernstein, Gerard T Berry, Alberto B Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S Gubbels, Ina Knerr, Philippe Labrune, Johanna H van der Lee, Anita MacDonald, Elaine Murphy, Pat A Portnoi, Katrin Õunap, Nancy L Potter, M Estela Rubio-Gozalbo, Jessica B Spencer, Inge Timmers, Eileen P Treacy, Sandra C Van Calcar, Susan E Waisbren, Annet M Bosch
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system...
November 17, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27856190/screening-of-mcad-deficiency-in-japan-16years-experience-of-enzymatic-and-genetic-evaluation
#13
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Satoshi Okada, Nobuo Sakura, Ikue Hata, Yosuke Shigematsu, Masao Kobayashi
BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations. In Japan, however, it was as late as 2000 when the first patient was found, and enzymatic and genetic evaluation of MCAD deficiency began. METHODS: We measured octanoyl-CoA dehydrogenase activity in lymphocytes of symptomatic children and newborn screening (NBS)-positive subjects who showed elevated levels of C8-acylcarnitine in blood...
October 21, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27853988/antenatal-manifestations-of-inborn-errors-of-metabolism-prenatal-imaging-findings
#14
Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban
Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27845054/simultaneous-determination-of-plasma-total-homocysteine-and-methionine-by-liquid-chromatography-tandem-mass-spectrometry
#15
Yi Jiang, Brandon Mistretta, Sarah Elsea, Qin Sun
The sulfur-containing amino acid homocysteine is a cardiac risk factor and a biomarker for several inborn errors of metabolism in methionine synthesis. A simple LC-MS/MS method was developed and validated for determination of homocysteine and methionine in human plasma. Rapid separation was achieved using a reverse phase liquid chromatography. Mass spectrometry identification was performed in positive electrospray ionization mode for homocysteine and methionine. Accuracy, precision, linearity, recovery and sample stability were evaluated in the method validation...
November 12, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27844104/primary-hyperoxaluria-spectrum-of-clinical-and-imaging-findings
#16
Sara B Strauss, Temima Waltuch, William Bivin, Frederick Kaskel, Terry L Levin
Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis)...
November 14, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27832414/herpetiform-keratitis-and-palmoplantar-hyperkeratosis-warning-signs-for-richner-hanhart-syndrome
#17
Diogo C Soares, Mariana N Stroparo, Yu C Lian, Cristina Y Takakura, Sabrina Wolf, Regina Betz, Chong A Kim
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830544/late-gestation-fetal-hepatocytes-for-liver-repopulation-in-the-rat
#18
Jennifer A Sanders
Cellular transplantation represents an alternative to liver transplantation for the treatment of end-stage liver disease and liver-based inborn errors of metabolism. In order for cellular transplantation to be successful, an optimal source of cells for transplantation needs to be identified and the molecular mechanisms regulating their engraftment, proliferation, and functional differentiation elucidated. Here we describe a detailed protocol for the isolation, selection, and transplantation into an injured adult rat liver of a defined population of late gestation fetal rat hepatocytes...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27830424/ketones-and-inborn-errors-of-metabolism-old-friends-revisited
#19
EDITORIAL
Rob C I Wüst, Gepke Visser, Ronald J A Wanders, Riekelt H Houtkooper
No abstract text is available yet for this article.
November 9, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#20
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
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