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Homocystinuria

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https://www.readbyqxmd.com/read/28904589/arterial-stroke-as-an-isolated-manifestation-of-homocystinuria-in-an-infant
#1
Rohan R Mahale, Anish Mehta, T Rau, Purushottam Acharya, Rangasetty Srinivasa
No abstract text is available yet for this article.
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28883877/homocystinuria-with-cerebral-venous-sinus-thrombosis-excellent-recovery-with-intravenous-recombinant-tissue-plasminogen-activator
#2
Vykuntaraju K Gowda, Raghunath C Nanjundappa, Hima Pendharkar, Naveen Benakappa
Hyperhomocysteinemia can cause cerebral venous thrombosis. Recombinant tissue plasminogen activator is one of the treatment options for cerebral venous thrombosis in selected cases. We present here a 7-year-old boy with homocysteinuria with stroke. MRI of brain showed cerebral venous sinus thrombosis. We successfully treated with intravenous recombinant tissue plasminogen activator. He recovered completely without any complications. Recombinant tissue plasminogen activator can be considered one of the treatment options in cerebral venous thrombosis in homocystinura...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28880978/quantitative-assessment-of-microstructural-changes-of-the-retina-in-infants-with-congenital-zika-syndrome
#3
Tomas S Aleman, Camila V Ventura, Milena M Cavalcanti, Leona W Serrano, Anastasia Traband, Akosua A Nti, Adriana L Gois, Vasco Bravo-Filho, Thayze T Martins, Charles W Nichols, Mauricio Maia, Rubens Belfort
Importance: A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in vivo microcopy with spectral-domain optical coherence tomography (SD-OCT) can provide an insight into the pathophysiology of congenital Zika syndrome (CZS). Objective: To quantify the microstructural changes of the retina in CZS and compare these changes with those of cobalamin C (cblC) deficiency, a disease with potential retinal maldevelopment...
September 7, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28835823/cerebral-venous-sinus-thrombosis-in-homocystinuria-dietary-intervention-in-conjunction-with-anticoagulation
#4
Sufin Yap, Deborah Annesley-Williams, Orla Hardiman
The presentation of cerebral venous sinus thrombosis may be acute or chronic with a progressive clinical course. The diagnosis can be challenging, and there are several clinical syndromes associated with the disease. It is also an uncommon but recognised complication of homocystinuria. We describe a case where early anticoagulation, together with dietary intervention, was associated with a favourable clinical outcome.
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28821635/enzyme-replacement-prevents-neonatal-death-liver-damage-and-osteoporosis-in-murine-homocystinuria
#5
Tomas Majtan, Helena Hůlková, Insun Park, Jakub Krijt, Viktor Kožich, Erez M Bublil, Jan P Kraus
Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused by deficient activity of cystathionine β-synthase (CBS), resulting in an accumulation of homocysteine and a concomitant decrease of cystathionine and cysteine in blood and tissues. In mice, the complete lack of CBS is neonatal lethal. In this study, newborn CBS knockout (KO) mice were treated with recombinant polyethyleneglycolylated human truncated CBS (PEG-CBS). Full survival of the treated KO mice, along with a positive impact on metabolite levels in plasma, liver, brain, and kidneys, was observed...
August 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28801090/leptin-concentrations-and-scd-1-indices-in-classical-homocystinuria-evidence-for-the-role-of-sulfur-amino-acids-in-the-regulation-of-lipid-metabolism
#6
Soraia Poloni, Poli Mara Spritzer, Roberta H Mendes, Vânia D'Almeida, Kamila Castro, Fernanda Sperb-Ludwig, Johanna Kugele, Sara Tucci, Henk J Blom, Ida V D Schwartz
BACKGROUND: We describe body composition, lipid metabolism and Stearoyl-CoA desaturase-1 (SCD-1) indices in patients with classical homocystinuria (HCU). METHODS: Eleven treated HCU patients and 16 healthy controls were included. Body composition and bone mineral density were assessed by dual X-ray absorptiometry. Sulfur amino acids (SAA) and their derivatives (total homocysteine, cysteine, methionine, S-adenosylmethionine, S-adenosylhomocysteine, and glutathione), lipids (free fatty acids, acylcarnitines, triglycerides and lipoproteins), glucose, insulin, leptin, adiponectin, and isoprostanes were measured in plasma...
October 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28779878/adult-classical-homocystinuria-requiring-parenteral-nutrition-pitfalls-and-management
#7
REVIEW
Christel Tran, Luisa Bonafé, Jean-Marc Nuoffer, Julie Rieger, Mette M Berger
BACKGROUND: Homocystinuria due to cystathionine beta synthase (CBS) deficiency presents with a wide clinical spectrum. Treatment by the enteral route aims at reducing homocysteine levels by using vitamin B6, possibly methionine-restricted diet, betaine and/or folate and vitamin B12 supplementation. Currently no nutritional guidelines exist regarding parenteral nutrition (PN) under acute conditions. METHODS: Exhaustive literature search was performed, in order to identify the relevant studies describing the pathogenesis and nutritional intervention of adult classical homocystinuria requiring PN...
July 25, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28777128/spinal-cord-injury-following-a-mild-trauma-in-homocystinuria-related-bone-frailty-neurorehabilitation-and-education-on-bone-health-management
#8
Ginny Varghese, Wafa Al Yazeedi, Mohammed Al Hamawi, Mohammed N Awad, Giorgio Ferriero, Elena Giovanazzi
Homocystinuria (HCU) is a rare autosomal recessive disease characterized by the deficiency of cystathionine β-synthetase, presenting with variable clinical features including micronutrient deficiency-related osteoporosis. Early-onset osteoporosis results in increased bone fragility, which is associated with low-impact fractures. To date, no traumatic myelopathy has ever been described in patients with HCU. This case report describes a 30-year-old male patient with HCU who was not aware that he was at high risk of sustaining debilitating bone fractures...
August 2, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28666510/homocystinuria-hc-and-neurofibromatosis-type-1-nf-1-an-unusual-presentation-in-a-child
#9
Muhammad Amer Yaqub, Muhammad Saim Khan, Asad Habib
Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28583326/cystathionine-%C3%AE-synthase-deficiency-of-mice-and-men
#10
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...
July 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
#11
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
#12
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
#13
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
#14
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%...
August 1, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28431470/engineering-and-characterization-of-an-enzyme-replacement-therapy-for-classical-homocystinuria
#15
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
#16
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
#17
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
#18
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
#19
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)...
April 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
#20
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
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