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Homocystinuria

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https://www.readbyqxmd.com/read/29340257/symmetrical-drug-related-intertriginous-and-flexural-exanthema-induced-by-doxycycline
#1
David G Li, Cristina Thomas, Gil S Weintraub, Arash Mostaghimi
Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE) is a cutaneous drug reaction characterized by erythema over the buttocks, thighs, groin, and flexural regions most commonly associated with the use of beta-lactam antibiotics. Although the exact pathophysiology of this disease remains unknown, it is theorized to be the result of a delayed hypersensitivity response presenting as a cutaneous eruption days to weeks after exposure to the drug. The treatment involves discontinuation of the suspected medication, symptomatic control of pruritus, and topical steroid therapy...
November 10, 2017: Curēus
https://www.readbyqxmd.com/read/29326875/homocystinuria-due-to-cystathionine-beta-synthase-cbs-deficiency-in-russia-molecular-and-clinical-characterization
#2
Elena Voskoboeva, Alla Semyachkina, Maria Yablonskaya, Ekaterina Nikolaeva
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new nonsense mutation, one new missense-mutation and three novel small deletions. We also report the clinical case of the B6-responsive patient genotyped as Ile278Thr/Cys109Arg...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29279830/homocystinuria-with-stroke-and-positive-familial-history
#3
Ali Mazaheri, Neda Mostofizadeh, Mahin Hashemipour
Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in the blood and urine. In this report, we present a case with clinical and biochemical findings of homocystinuria with stroke and a positive familial history of the disease in her brother. A 4-year-old girl was admitted to pediatric emergency ward because of acute onset of right hemiparesis and subsequent generalized tonic-clonic seizures...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29275181/crystal-structure-of-cystathionine-%C3%AE-synthase-from-honeybee-apis-mellifera
#4
Paula Giménez-Mascarell, Tomas Majtan, Iker Oyenarte, June Ereño-Orbea, Juraj Majtan, Jaroslav Klaudiny, Jan P Kraus, Luis Alfonso Martínez-Cruz
Cystathionine β-synthase (CBS), the key enzyme in the transsulfuration pathway, links methionine metabolism to the biosynthesis of cellular redox controlling molecules. CBS catalyzes the pyridoxal-5'-phosphate-dependent condensation of serine and homocysteine to form cystathionine, which is subsequently converted into cysteine. Besides maintaining cellular sulfur amino acid homeostasis, CBS also catalyzes multiple hydrogen sulfide-generating reactions using cysteine and homocysteine as substrates. In mammals, CBS is activated by S-adenosylmethionine (AdoMet), where it can adopt two different conformations (basal and activated), but exists as a unique highly active species in fruit fly Drosophila melanogaster...
December 21, 2017: Journal of Structural Biology
https://www.readbyqxmd.com/read/29175875/late-diagnosis-of-homocystinuria-in-an-adult-after-extensive-cerebral-venous-thrombosis
#5
EDITORIAL
Sonia Quintas, Julio Dotor-García Soto, María Concepción Alonso-Cerezo, Maria Teresa Carreras
No abstract text is available yet for this article.
November 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29119254/potential-pharmacological-chaperones-for-cystathionine-beta-synthase-deficient-homocystinuria
#6
Tomas Majtan, Angel L Pey, Paula Gimenez-Mascarell, Luis Alfonso Martínez-Cruz, Csaba Szabo, Viktor Kožich, Jan P Kraus
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymatic degradation of homocysteine, a toxic intermediate of methionine transformation to cysteine, chiefly due to missense mutations in the cystathionine beta-synthase (CBS) gene. As with many other inherited disorders, the pathogenic mutations do not target key catalytic residues, but rather introduce structural perturbations leading to an enhanced tendency of the mutant CBS to misfold and either to form nonfunctional aggregates or to undergo proteasome-dependent degradation...
November 10, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29101223/taurine-treatment-prevents-derangement-of-the-hepatic-%C3%AE-glutamyl-cycle-and-methylglyoxal-metabolism-in-a-mouse-model-of-classical-homocystinuria-regulatory-crosstalk-between-thiol-and-sulfinic-acid-metabolism
#7
Kenneth N Maclean, Hua Jiang, Stefanos Aivazidis, Eugene Kim, Colin T Shearn, Peter S Harris, Dennis R Petersen, Robert H Allen, Sally P Stabler, James R Roede
Cystathionine β-synthase-deficient homocystinuria (HCU) is a poorly understood, life-threatening inborn error of sulfur metabolism. Analysis of hepatic glutathione (GSH) metabolism in a mouse model of HCU demonstrated significant depletion of cysteine, GSH, and GSH disulfide independent of the block in trans-sulfuration compared with wild-type controls. HCU induced the expression of the catalytic and regulatory subunits of γ-glutamyl ligase, GSH synthase (GS), γ-glutamyl transpeptidase 1, 5-oxoprolinase (OPLAH), and the GSH-dependent methylglyoxal detoxification enzyme, glyoxalase-1...
November 3, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#8
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29082121/bilateral-posterior-crystalline-lens-dislocations-in-an-otherwise-healthy-child
#9
Omar A AlShehri, Hashem Almarzouki, Badr A Alharbi, Mohammed Alqahtani, Khaled Allam
Introduction: Ectopia lentis is defined as a crystalline lens displacement, either partially or completely, due to zonular abnormalities. It can be a result of trauma, hereditary ocular disease, or part of systemic diseases, like Marfan syndrome and homocystinuria. Case description: We report a case of a medically free 16-year-old girl, who was referred to our hospital complaining of poor vision and a squint in both eyes since childhood. Her history included a traffic accident when she was one-year-old. She was previously diagnosed with alternating esotropia, which was treated with glasses, alternating patching, and bilateral Botox injections...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/29044829/enzyme-replacement-therapy-prevents-loss-of-bone-and-fat-mass-in-murine-homocystinuria
#10
Tomas Majtan, Insun Park, Erez M Bublil, Jan P Kraus
Skeletal and connective tissue defects are the most striking symptoms in patients suffering from classical homocystinuria (HCU). Here, we determined body composition and bone mass in three mouse models of HCU and assessed whether a long-term administration of enzyme replacement therapy (ERT) corrected the phenotype. The mouse models of HCU were analyzed using dual-energy X-ray absorptiometry and the data were complemented by plasma biochemical profiles. Both the mouse model lacking CBS (KO) and the one expressing human CBS mutant transgene on a mouse CBS null background (I278T) showed marked bone loss and decreased weight mostly due to a lower fat content compared with negative controls...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29042959/diagnosis-of-cobalamin-c-deficiency-with-renal-abnormality-from-onset-in-a-chinese-child-by-next-generation-sequencing-a-case-report
#11
Qiuxia Chen, Huaying Bao, Hongmei Wu, Sanlong Zhao, Songming Huang, Fei Zhao
The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Children's Hospital of Nanjing Medical University (Nanjing, China). A routine clinical examination was performed, including physical examination, routine blood and urine tests, blood gas analysis, computed tomography scans of the head, chest and abdomen, electrocardiogram, echocardiography and abdominal ultrasonography...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28980096/isolated-aortic-root-dilation-in-homocystinuria
#12
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/28904589/arterial-stroke-as-an-isolated-manifestation-of-homocystinuria-in-an-infant
#13
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
#14
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
#15
COMPARATIVE STUDY
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...
October 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28835823/cerebral-venous-sinus-thrombosis-in-homocystinuria-dietary-intervention-in-conjunction-with-anticoagulation
#16
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
#17
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
#18
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
#19
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
#20
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
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