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Homocystinuria

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https://www.readbyqxmd.com/read/28583326/cystathionine-%C3%AE-synthase-deficiency-of-mice-and-men
#1
REVIEW
Warren D Kruger
Cystathionine β-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes...
May 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28488385/the-c-797-g-a-p-r266k-cystathionine-%C3%AE-synthase-mutation-causes-homocystinuria-by-affecting-protein-stability
#2
Sapna Gupta, Liqun Wang, Warren D Kruger
Mutations in the cystathionine beta-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The c.797 G>A (p.R266K) mutation in CBS was originally described in several Norwegian pyridoxine responsive CBS deficient patients, and heterologous gene expression studies have shown that the protein has near wild-type levels of enzyme activity. Here, we characterize a transgenic mouse lacking endogenous Cbs and expressing p.R266K human CBS protein from a zinc inducible metallothionein promoter (Tg-R266K Cbs(-/-) )...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28481040/optical-coherence-tomography-morphology-and-evolution-in-cblc-disease-related-maculopathy-in-a-case-series-of-very-young-patients
#3
Giacomo M Bacci, Maria A Donati, Elisabetta Pasquini, Francis Munier, Catia Cavicchi, Amelia Morrone, Andrea Sodi, Vittoria Murro, Nuria Garcia Segarra, Claudio Defilippi, Leonardo Bussolin, Roberto Caputo
PURPOSE: To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, using spectral domain optical coherence tomography (SD-OCT). METHODS: Young patients (n = 11, age 0-74 months) with cblC disease, detected by newborn screening or clinically diagnosed within 40 days of life, underwent molecular analysis and complete ophthalmic examination, including fundus photography and SD-OCT...
May 8, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28473367/malar-rash-in-classical-homocystinuria
#4
Arushi Gahlot Saini, Hansashree Padmanabha, Savita Attri, Pratibha Singhi
No abstract text is available yet for this article.
May 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28465033/newborn-screening-by-matrix-assisted-laser-desorption-ionization-mass-spectrometry-based-on-parylene-matrix-chip
#5
Jo-Il Kim, Joo-Yoon Noh, Mira Kim, Jong-Min Park, Hyun-Woo Song, Min-Jung Kang, Jae-Chul Pyun
Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%...
April 29, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28431470/engineering-and-characterization-of-an-enzyme-replacement-therapy-for-classical-homocystinuria
#6
Tomas Majtan, Insun Park, Richard S Carrillo, Erez M Bublil, Jan P Kraus
Homocystinuria due to loss of cystathionine beta-synthase (CBS) causes accumulation of homocysteine and depletion of cysteine. Current treatments are suboptimal, and thus the development of an enzyme replacement therapy based on PEGylated human truncated CBS (PEG-CBS) has been initiated. Attenuation of potency was observed, which necessitated a screen of several PEG-CBS conjugates for their efficacy to correct and maintain the plasma metabolite profile of murine homocystinuria after repeated administrations interrupted with washouts...
May 1, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28429690/-our-experience-in-the-diagnosis-and-treatment-of-postural-orthostatic-tachycardia-syndrome-vasovagal-syncope-and-inappropriate-sinus-tachycardia-in-children
#7
Sezen Ugan Atik, Reyhan Dedeoğlu, Aida Koka, Funda Öztunç
OBJECTIVES: The aim of this study was to share our experience in the diagnosis and treatment of patients who presented at our clinic with syncope, pre-syncope, dizziness, and palpitations. STUDY DESIGN: Patients who were treated at pediatric cardiology clinic for complaints of syncope, dizziness, and palpitations between 2014 and 2016 were enrolled in the study. Detailed history of the patients, physical examination findings, laboratory and electrocardiogram results were recorded...
April 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28421128/a-clinically-relevant-variant-of-the-human-hydrogen-sulfide-synthesizing-enzyme-cystathionine-%C3%AE-synthase-increased-co-reactivity-as-a-novel-molecular-mechanism-of-pathogenicity
#8
João B Vicente, Henrique G Colaço, Francesca Malagrinò, Paulo E Santo, André Gutierres, Tiago M Bandeiras, Paula Leandro, José A Brito, Alessandro Giuffrè
The human disease classical homocystinuria results from mutations in the gene encoding the pyridoxal 5'-phosphate- (PLP-) dependent cystathionine β-synthase (CBS), a key enzyme in the transsulfuration pathway that controls homocysteine levels, and is a major source of the signaling molecule hydrogen sulfide (H2S). CBS activity, contributing to cellular redox homeostasis, is positively regulated by S-adenosyl-L-methionine (AdoMet) but fully inhibited upon CO or NO• binding to a noncatalytic heme moiety. Despite extensive studies, the molecular basis of several pathogenic CBS mutations is not yet fully understood...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28363510/x-linked-cobalamin-disorder-hcfc1-mimicking-nonketotic-hyperglycinemia-with-increased-both-cerebrospinal-fluid-glycine-and-methylmalonic-acid
#9
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, Marisa W Friederich, Gunter Scharer, Daniel Helbling, Jamie Wendt-Andrae, Johan L K Van Hove
BACKGROUND: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS: We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, subsequently evolving into refractory epilepsy and severe neurocognitive impairment...
January 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28291718/cystathionine-beta-synthase-deficiency-alters-hepatic-phospholipid-and-choline-metabolism-post-translational-repression-of-phosphatidylethanolamine-n-methyltransferase-is-a-consequence-rather-than-a-cause-of-liver-injury-in-homocystinuria
#10
René L Jacobs, Hua Jiang, John P Kennelly, David J Orlicky, Robert H Allen, Sally P Stabler, Kenneth N Maclean
Classical homocystinuria (HCU) due to inactivating mutation of cystathionine β-synthase (CBS) is a poorly understood life-threatening inborn error of sulfur metabolism. A previously described cbs-/- mouse model exhibits a semi-lethal phenotype due to neonatal liver failure. The transgenic HO mouse model of HCU exhibits only mild liver injury and recapitulates multiple aspects of the disease as it occurs in humans. Disruption of the methionine cycle in HCU has the potential to impact multiple aspect of phospholipid (PL) metabolism by disruption of both the Kennedy pathway and phosphatidylethanolamine N-methyltransferase (PEMT) mediated synthesis of phosphatidylcholine (PC)...
March 2, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28258516/oxidative-stress-in-homocystinuria-due-to-cystathionine-%C3%A3-synthase-deficiency-findings-in-patients-and-in-animal-models
#11
REVIEW
Jéssica Lamberty Faverzani, Tatiane Grazieli Hammerschmidt, Angela Sitta, Marion Deon, Moacir Wajner, Carmen Regla Vargas
Homocystinuria is an inborn error of amino acid metabolism caused by deficiency of cystathionine ß-synthase (CBS) activity, biochemically characterized by homocysteine (Hcy) and methionine (Met) accumulation in biological fluids and high urinary excretion of homocystine. Clinical manifestations include thinning and lengthening of long bones, osteoporosis, dislocation of the ocular lens, thromboembolism, and mental retardation. Although the pathophysiology of this disease is poorly known, the present review summarizes the available experimental findings obtained from patients and animal models indicating that oxidative stress may contribute to the pathogenesis of homocystinuria...
March 3, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28137899/cerebral-venous-thrombosis-as-the-first-presentation-of-classical-homocystinuria-in-an-adult-patient
#12
Emily Woods, Charlotte Dawson, Latha Senthil, Tarekegn Geberhiwot
A 30-year-old woman presented with severe headache, dysarthria and right hemiparesis. She was treated for suspected viral encephalopathy and recovered over the following weeks although the headaches persisted. Two months later she was treated in-hospital for pulmonary embolism. The following year she was readmitted for increased frequency of headaches and was given a diagnosis of migraine. A subsequent MRI head scan was suggestive of longstanding venous sinus infarcts and neuroradiology review concluded that encephalitis had been the incorrect initial diagnosis...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28101774/newborn-screening-for-remethylation-disorders-and-vitamin-b12-deficiency-evaluation-of-new-strategies-in-cohorts-from-qatar-and-germany
#13
Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F Hoffmann, Hilal Al Rifai, Jürgen G Okun
BACKGROUND: Newborn screening is a precondition for early diagnosis and succeßsful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. METHODS: A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28069796/high-dietary-folate-in-pregnant-mice-leads-to-pseudo-mthfr-deficiency-and-altered-methyl-metabolism-with-embryonic-growth-delay-and-short-term-memory-impairment-in-offspring
#14
Renata H Bahous, Nafisa M Jadavji, Liyuan Deng, Marta Cosín-Tomás, Jessica Lu, Olga Malysheva, Kit-Yi Leung, Ming-Kai Ho, Mercè Pallàs, Perla Kaliman, Nicholas D E Greene, Barry J Bedell, Marie A Caudill, Rima Rozen
Methylenetetrahydrofolate reductase (MTHFR) generates methyltetrahydrofolate for methylation reactions. Severe MTHFR deficiency results in homocystinuria and neurologic impairment. Mild MTHFR deficiency (677C > T polymorphism) increases risk for complex traits, including neuropsychiatric disorders. Although low dietary folate impacts brain development, recent concerns have focused on high folate intake following food fortification and increased vitamin use. Our goal was to determine whether high dietary folate during pregnancy affects brain development in murine offspring...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27896524/guidelines-on-homocystinurias-and-methylation-defects-a-harmonized-approach-to-diagnosis-and-management
#15
EDITORIAL
Eva Morava
No abstract text is available yet for this article.
January 2017: 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
#16
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...
January 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27743313/functional-characterization-of-missense-mutations-in-severe-methylenetetrahydrofolate-reductase-deficiency-using-a-human-expression-system
#17
Patricie Burda, Terttu Suormala, Dorothea Heuberger, Alexandra Schäfer, Brian Fowler, D Sean Froese, Matthias R Baumgartner
5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the NADPH-dependent reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate using FAD as the cofactor. Severe MTHFR deficiency is the most common inborn error of folate metabolism, resulting in hyperhomocysteinemia and homocystinuria. Approximately 70 missense mutations have been described that cause severe MTHFR deficiency, however, in most cases their mechanism of dysfunction remains unclear. Few studies have investigated mutational specific defects; most of these assessing only activity levels from a handful of mutations using heterologous expression...
October 14, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27681349/peripheral-nerve-involvement-in-classic-homocystinuria-an-unusual-association
#18
Miguel Oliveira Santos, Ruth Geraldes, Isabel Conceição
Classic homocystinuria is one of the most common causes of hereditary hyperhomocysteinemia. It is an autosomal recessive and multisystemic disorder due to cystathionine β-synthase deficiency. We described a case of an 18-year-old Portuguese man with an ischaemic stroke, who was subsequently diagnosed with classic homocystinuria [Thr191Met (c.572C>T) CBS mutation] associated with a sensorimotor neuropathy. The patient had a good clinical and metabolic response to pyridoxine plus methionine-restricted diet after 12 months of treatment...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27413567/cooccurrence-of-postural-orthostatic-tachycardia-syndrome-with-two-different-clinical-entities
#19
Funda Oztunc, Sezen Ugan Atik, Reyhan Dedeoglu, Firuze Erbek Alp, Selman Gokalp
Postural orthostatic tachycardia syndrome (POTS) is an abnormal heart rate response to a positional change. Several potential mechanisms for pathophysiology of POTS are defined. This syndrome can coexist with different clinical situations. In our report, the first case was a 13-year-old female who has been followed up for diagnosis of homocystinuria. She was admitted to our outpatient clinic with complaints of dizziness after suddenly moving from supine to upright position and chest pain after exercise. Tilt table test was performed to evaluate dizziness...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27330833/a-case-of-homocystinuria-misdiagnosed-as-moyamoya-disease-a-case-report
#20
Meltem Erol, Ozlem Bostan Gayret, Ozgul Yigit, Kubra Serefoglu Cabuk, Mehmet Toksoz, Mahir Tiras
INTRODUCTION: Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient's diagnosis was changed to homocystinuria as a result of lens subluxation and cataract findings...
April 2016: Iranian Red Crescent Medical Journal
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