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Homocystinuria Homocysteinemia

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Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.

Mathilde Lemoine, Arnaud François, Steven Grangé, Marion Rabant, Valérie Châtelet, David Cassiman, Emilie Cornec-Le Gall, Damien Ambrosetti, Georges Deschênes, Jean-François Benoist, Dominique Guerrot,

Cobalamin C (cblC) deficiency is the most common inborn error of vitamin B12 metabolism. Renal failure attributed to thrombotic microangiopathy (TMA) has occasionally been described in the late-onset presentation of cblC deficiency, but kidney lesions associated with cblC deficiency remain poorly defined. This study aims to describe the characteristics of ... Read more >>

Kidney Int Rep (Kidney international reports)
[2018, 3(5):1153-1162]

Cited: 0 times

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Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu, Shunying Zhao,

Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typically include neurologic, developmental and hematologic abnormalities.We ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2017, 12(1):58]

Cited: 4 times

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Quantitative Analysis of Total Plasma Homocysteine by LC-MS/MS.

Libin Yuan, J Daniel Sharer,

Homocysteine is a nonessential, sulfur-containing amino acid involved in one-carbon (folate) metabolism. A number of inherited and acquired conditions cause increased accumulation of this metabolite in blood (homocysteinemia) and other biofluids. Homocysteinemia is a risk factor for cardiovascular disease, including recurrent thrombosis. Accurate measurement of total plasma homocysteine is an ... Read more >>

Curr Protoc Hum Genet (Current protocols in human genetics)
[2016, 89:17.21.1-17.21.10]

Cited: 1 time

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Clinical spectrum and surgical outcomes in spherophakia: a prospective interventional study.

S Khokhar, G Pillay, S Sen, E Agarwal,

PurposeTo study the varied clinical presentations of patients with spherophakia, their management using surgical methods, and the clinical outcomes.Patients and methodsA prospective interventional study of 13 patients of spherophakia who presented to us from January 2014 and were followed up over the course of their treatment, and the data were ... Read more >>

Eye (Lond) (Eye (London, England))
[2018, 32(3):527-536]

Cited: 1 time

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Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.

Wei Zhou, Huizhong Li, Chuanxia Wang, Xiuli Wang, Maosheng Gu,

Background: Methylmalonic acidemia (MMA) incidence was evaluated based on newborn screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical and molecular characteristics of patients with MMA harboring MMACHC and MUT mutations were summarized. Methods: During the study, 236,368 newborns were screened for MMA by tandem mass ... Read more >>

Front Genet (Frontiers in genetics)
[2018, 9:726]

Cited: 1 time

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Vision of correction for classic homocystinuria.

Dwight D Koeberl,

Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase (CBS), and many of these individuals do not respond ... Read more >>

J. Clin. Invest. (The Journal of clinical investigation)
[2016, 126(6):2043-2044]

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Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient.

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 ... Read more >>

BMJ Case Rep (BMJ case reports)
[2017, 2017:]

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CBS promoter hypermethylation increases the risk of hypertension and stroke.

Changyi Wang, Guodong Xu, Qi Wen, Xiaolin Peng, Hongen Chen, Jingwen Zhang, Shan Xu, Chunhui Zhang, Min Zhang, Jianping Ma, Zhaohui Hui, Guifu Wu, Min Ma,

OBJECTIVES:Cystathionine β-synthase is a major enzyme in the metabolism of plasma homocysteine. Hyperhomocysteinemia is positively associated with hypertension and stroke. The present study was performed to examine the possible effects of Cystathionine β-synthase promoter methylation on the development of hypertension and stroke. METHODS:Using quantitative methylation-specific PCR, we determined the Cystathionine ... Read more >>

Clinics (Sao Paulo) (Clinics (Sao Paulo, Brazil))
[2019, 74:e630]

Cited: 3 times

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Venous thromboembolism and hyperhomocysteinemia as first manifestation of pernicious anemia: a case series.

W Ammouri, Z Mezalek Tazi, H Harmouche, M Maamar, M Adnaoui,

Hyperhomocysteinemia has been suspected of favoring thrombosis. Several case-control studies and even a meta-analysis have confirmed a link between venous thrombosis and hyperhomocysteinemia. Homocysteine is due to genetic and acquired factors (poor diet in folate and vitamin B12, older age, renal impairment, thyroid diseases, and malignancies) induced by the intake ... Read more >>

J Med Case Rep (Journal of medical case reports)
[2017, 11(1):250]

Cited: 1 time

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A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report.

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 ... Read more >>

Iran Red Crescent Med J (Iranian Red Crescent medical journal)
[2016, 18(4):e30332]

Cited: 1 time

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Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Bingjuan Han, Zhiyang Cao, Liping Tian, Hui Zou, Lian Yang, Weiwei Zhu, Yingxia Liu,

To estimate the incidence of MMA on newborn screening in Shandong province from May 2011 to May 2014 and summarize the clinical presentation, biochemical features, mutation analysis, and treatment regime of early-treated patients with cblC disease.Between May 2011 and May 2014, 35,291 newborns were screened for MMA in Jinan maternal ... Read more >>

Brain Dev. (Brain & development)
[2016, 38(5):491-497]

Cited: 8 times

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Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Bodo B Beck, FrancJan van Spronsen, Arjan Diepstra, Rolf M F Berger, Martin Kömhoff,

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B12) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly, seizures, developmental delay, ataxia, hypotonia) and variable extracentral nervous system involvement (failure to thrive, cardiovascular, renal, ocular) manifesting ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2017, 32(5):733-741]

Cited: 16 times

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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

Mahavir Singh, Suresh C Tyagi,

Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our eyes. Based on these findings, it is becoming clear that an early ... Read more >>

Int J Ophthalmol (International journal of ophthalmology)
[2018, 11(1):117-134]

Cited: 1 time

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Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.

Noriyuki Akahoshi, Shotaro Kamata, Masashi Kubota, Takako Hishiki, Yoshiko Nagahata, Tomomi Matsuura, Chiho Yamazaki, Yuka Yoshida, Hidenori Yamada, Yasuki Ishizaki, Makoto Suematsu, Tadashi Kasahara, Isao Ishii,

The kidney is one of the major loci for the expression of cystathionine β-synthase (CBS) and cystathionine γ-lyase (CTH). While CBS-deficient (Cbs(-/-)) mice display homocysteinemia/methioninemia and severe growth retardation, and rarely survive beyond the first 4 wk, CTH-deficient (Cth(-/-)) mice show homocysteinemia/cystathioninemia but develop with no apparent abnormality. This study ... Read more >>

Am. J. Physiol. Renal Physiol. (American journal of physiology. Renal physiology)
[2014, 306(12):F1462-76]

Cited: 6 times

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Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression.

Parvaneh Karimzadeh, Mohammad Mahdi Taghdiri, Ezatollah Abasi, Masoud Hassanvand Amouzadeh, Zhila Naghavi, Ahad Ghazavi, Mohammad Mahdi Nasehi, Abbas Alipour,

Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children.Two-year ... Read more >>

Iran J Child Neurol (Iranian journal of child neurology)
[2017, 11(3):42-47]

Cited: 1 time

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Hyperhomocysteinemia and high doses of nilotinib favor cardiovascular events in chronic phase Chronic Myelogenous Leukemia patients.

Gaëlle Fossard, Emilie Blond, Marie Balsat, Stéphane Morisset, Stéphane Giraudier, Martine Escoffre-Barbe, Hélène Labussière-Wallet, Maël Heiblig, Arthur Bert, Madeleine Etienne, Jocelyne Drai, Mohamad Sobh, Isabelle Redonnet-Vernhet, Jean-Christophe Lega, François-Xavier Mahon, Gabriel Etienne, Franck Emmanuel Nicolini,

Haematologica (Haematologica)
[2016, 101(3):e86-90]

Cited: 5 times

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The Sulfur Metabolite Lanthionine: Evidence for a Role as a Novel Uremic Toxin.

Alessandra F Perna, Miriam Zacchia, Francesco Trepiccione, Diego Ingrosso,

Lanthionine is a nonproteinogenic amino acid, composed of two alanine residues that are crosslinked on their β-carbon atoms by a thioether linkage. It is biosynthesized from the condensation of two cysteine molecules, while the related compound homolanthionine is formed from the condensation of two homocysteine molecules. The reactions can be ... Read more >>

Toxins (Basel) (Toxins)
[2017, 9(1):]

Cited: 5 times

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Multiple extra macular branch retinal vein occlusions in hyperhomocysteinemia.

Abhijit Diwakar Gore, Girish Shiva Rao, Mansi Abhijit Gore, Abhishek R Desai,

Hyperhomocysteinemia is a well-known modifiable risk factor for thromboembolism. Retinal vascular occlusion in patients having hyperhomocysteinemia is a known entity, particularly in young patients. However, multiple extra macular branch retinal vein occlusion (BRVO) is a rare condition, which can be a presentation of this disease. We present a patient who ... Read more >>

Indian J Ophthalmol (Indian journal of ophthalmology)
[2014, 62(4):489-491]

Cited: 3 times

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Comparison of Protein N-Homocysteinylation in Rat Plasma under Elevated Homocysteine Using a Specific Chemical Labeling Method.

Tianzhu Zang, Ligi Paul Pottenplackel, Diane E Handy, Joseph Loscalzo, Shujia Dai, Richard C Deth, Zhaohui Sunny Zhou, Jisheng Ma,

Elevated blood concentrations of homocysteine have been well established as a risk factor for cardiovascular diseases and neuropsychiatric diseases, yet the etiologic relationship of homocysteine to these disorders remains poorly understood. Protein N-homocysteinylation has been hypothesized as a contributing factor; however, it has not been examined globally owing to the ... Read more >>

Molecules (Molecules (Basel, Switzerland))
[2016, 21(9):]

Cited: 0 times

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[Reconsideration of homocysteinemia].

Isao Ishii,

Seikagaku (Seikagaku. The Journal of Japanese Biochemical Society)
[2013, 85(12):1067-1071]

Cited: 0 times

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Vitamin B12 Deficiency and Elevated Folate Levels: An Unusual Cause of Generalized Tonic-Clonic Seizure.

Sandeep Singh Lubana, Mostafa Alfishawy, Navdeep Singh, Sharon Atkinson,

Vitamin B12 deficiency leads to abnormal myelination or demyelination, resulting in sub-acute combined degeneration, peripheral neuropathy, and psychiatric problems, including delusions, hallucinations, cognitive changes, depression, and dementia. Vitamin B12 deficiency also leads to brain shrinkage and neurodegenerative disorders.We report the case of a 49-year-old man presenting with new-onset seizures one ... Read more >>

Am J Case Rep (The American journal of case reports)
[2015, 16:386-389]

Cited: 2 times

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PKC/NADPH oxidase are involved in the protective effect of pioglitazone in high homocysteine-induced paracrine dyfunction in endothelial progenitor cells.

Shengjie Xu, Yanbo Zhao, Chongying Jin, Lu Yu, Fang Ding, Guosheng Fu, Junhui Zhu,

Increasing evidence suggests that EPCs improve neovascularization and endothelial regeneration via the production of paracrine factors. VEGF and IL-8 are major cytokines involved in EPC-mediated angiogenesis and re-endothelialization. In our previous studies, Hcy impaired EPC migratory and adhesive activities. We devised this study to determine whether Hcy could affect the ... Read more >>

Am J Transl Res (American journal of translational research)
[2017, 9(3):1037-1048]

Cited: 5 times

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Hyperhomocysteinemia: Anesthetic concerns.

Shiba Aggarwal, Shalini Verma, Baljit Singh, Mritunjay Kumar,

Saudi J Anaesth (Saudi journal of anaesthesia)
[2014, 8(1):143-144]

Cited: 0 times

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Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

Lucas Bonafede, Can H Ficicioglu, Leona Serrano, Grace Han, Jessica I W Morgan, Monte D Mills, Brian J Forbes, Stefanie L Davidson, Gil Binenbaum, Paige B Kaplan, Charles W Nichols, Patrick Verloo, Bart P Leroy, Albert M Maguire, Tomas S Aleman,

To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease.Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photography, near-infrared reflectance imaging, and spectral-domain optical ... Read more >>

Invest. Ophthalmol. Vis. Sci. (Investigative ophthalmology & visual science)
[2015, 56(13):7875-7887]

Cited: 9 times

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Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.

Zuhier Awan, Sumayah Aljenedil, David S Rosenblatt, Jean Cusson, Brian M Gilfix, Jacques Genest,

Homocysteine is an amino acid that is toxic to vascular endothelial cells, and plasma elevations have been associated with venous thromboembolism. Severe hyperhomocysteinemia (>100 μmol/L) may result from mutations in the genes coding for enzymes in the trans-sulfuration or the folate/vitamin B12-dependent re-methylation pathways. Here, we report the case of a ... Read more >>

Thromb J (Thrombosis journal)
[2014, 12(1):30]

Cited: 2 times

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