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Homocystinuria Homocysteinemia

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Frequency of Homocysteinemia in Young Ischemic Stroke Patients and Its Relationship with the Early Outcome of a Stroke.

Farheen Niazi, Ayesha Aslam, Sadaf Khattak, Satia Waheed,

Objective To find out the frequency of hyperhomocysteinemia in young ischaemic stroke patients and its relationship with early morbidity and mortality. Methods This prospective study was conducted on young ischemic stroke patients in Pakistan Atomic Energy Commission General Hospital, Islamabad. Ischaemic stroke patients of age < 45 years were selected ... Read more >>

Cureus (Cureus)
[2019, 11(9):e5625]

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Preeclampsia-Like Features and Partial Lactation Failure in Mice Lacking Cystathionine γ-Lyase-An Animal Model of Cystathioninuria.

Noriyuki Akahoshi, Hiroki Handa, Rintaro Takemoto, Shotaro Kamata, Masahide Yoshida, Tatsushi Onaka, Isao Ishii,

Elevated plasma homocysteine levels are considered as a risk factor for cardiovascular diseases as well as preeclampsia-a pregnancy disorder characterized by hypertension and proteinuria. We previously generated mice lacking cystathionine γ-lyase (Cth) as cystathioninuria models and found them to be with cystathioninemia/homocysteinemia. We investigated whether Cth-deficient (Cth-/-) pregnant mice display ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 20(14):]

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A Rare Case of Hyperhomocysteinemia-associated Thrombotic Stroke in the Pediatric Age Group.

Hitanshu Dave, Parth Dalal, Pooja Patel, Rupak Desai,

Association between hyperhomocysteinemia and stroke has been well documented in the literature. However, there are limited reports revealing stroke events in the pediatric population affected by hyperhomocysteinemia. Herein, we present a case which shows genetically inherited hyperhomocysteinemia leading to a stroke event in a 14-year-old child. The patient presented to ... Read more >>

Cureus (Cureus)
[2019, 11(4):e4490]

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Abnormal Amino Acid Profiles of Blood and Cerebrospinal Fluid from Cystathionine β-Synthase-Deficient Mice, an Animal Model of Homocystinuria.

Noriyuki Akahoshi, Akira Yokoyama, Tomoko Nagata, Asumi Miura, Shotaro Kamata, Isao Ishii,

Mental retardation is the most common feature among inborn errors of amino acid metabolism. Patients with homocystinuria/homocysteinemia caused by cystathionine β-synthase (CBS) deficiency suffer from thromboembolism and mental retardation from early ages; therefore, detection by newborn screening is performed. Furthermore, elevated levels of serum homocysteine during pregnancy are associated with ... Read more >>

Biol. Pharm. Bull. (Biological & pharmaceutical bulletin)
[2019, 42(6):1054-1057]

Cited: 1 time

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Methylenetetrahydrofolate Reductase Polymorphism and Premature Coronary Artery Disease.

Ahmed Zaghloul, Corina Iorgoveanu, Aakash Desai, Kathir Balakumaran, Kai Chen,

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine re-methylation to methionine. Its deficiency leads to an increased serum level of homocysteine, which is well-known to be associated with premature coronary artery disease (CAD). Our case demonstrates the association of MTHFR polymorphism with premature CAD ... Read more >>

Cureus (Cureus)
[2019, 11(6):e5014]

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The Effects of Homocysteine on the Skeleton.

Mitsuru Saito, Keishi Marumo,

PURPOSE OF REVIEW:Homocystinuria is a congenital metabolic disorder in which cystathionine β-synthase deficiency results in a prominent increase in homocysteine (serum levels > 100 μM), causing mental retardation, atherosclerotic cerebral infarction, and osteoporosis accompanied by fragility fractures. Encountering a case with excessive homocysteinemia such as that seen in hereditary homocystinuria is unlikely ... Read more >>

Curr Osteoporos Rep (Current osteoporosis reports)
[2018, 16(5):554-560]

Cited: 1 time

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Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.

Junling Cui, Yuanyuan Wang, Huifeng Zhang, Xiaopu Cui, Lihui Wang, Huacheng Zheng,

RATIONALE:Subacute combined degeneration (SCD) is a disease caused by decreased vitamin B12 intake or metabolic disorders. It is more common in the elderly and rarely seen in children. Here, we report 2 pediatric cases of SCD in late-onset cobalamin C (CblC) deficiency. PATIENT CONCERNS:The patients complained of unsteady gait. Their ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(39):e17334]

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Oral high dose vitamin B12 decreases renal superoxide and post-ischemia/reperfusion injury in mice.

Feng Li, Edward M Bahnson, Jennifer Wilder, Robin Siletzky, John Hagaman, Volker Nickekeit, Sylvia Hiller, Azraa Ayesha, Lanfei Feng, Jerrold S Levine, Nobuyuki Takahashi, Nobuyo Maeda-Smithies,

Renal ischemia/reperfusion injury (IRI) is a leading cause of acute kidney injury (AKI), a potentially fatal syndrome characterized by a rapid decline in kidney function. Excess production of superoxide contributes to the injury. We hypothesized that oral administration of a high dose of vitamin B12 (B12 - cyanocobalamin), which possesses ... Read more >>

Redox Biol (Redox biology)
[2020, 32:101504]

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A Novel Fracture Prediction Model Using Machine Learning in a Community-Based Cohort.

Sung Hye Kong, Daehwan Ahn, Buomsoo Raymond Kim, Karthik Srinivasan, Sudha Ram, Hana Kim, A Ram Hong, Jung Hee Kim, Nam H Cho, Chan Soo Shin,

The prediction of fracture risk in osteoporotic patients has been a topic of interest for decades, and models have been developed for the accurate prediction of fracture, including the fracture risk assessment tool (FRAX). As machine-learning methodologies have recently emerged as a potential model for medical prediction tools, we aimed ... Read more >>

JBMR Plus (JBMR Plus)
[2020, 4(3):e10337]

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Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.

Sheng-Jun Wang, Chuan-Zhu Yan, Bing Wen, Yu-Ying Zhao,

Objective:The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism. Late-onset cblC disease was diagnosed in patients having overt symptoms after 4 years of age. The late-onset cblC disease patients were rare and easily misdiagnosed. This study analyzed the clinical presentations, gene mutations, and treatments of Chinese patients ... Read more >>

Neuropsychiatr Dis Treat (Neuropsychiatric Disease and Treatment)
[2019, 15:549-555]

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Hyperhomocysteinemia in a Patient with Moyamoya Disease.

Durga Shankar Meena, Gopal Krishana Bohra, Mahadev Meena, Bharat Kumar Maheshwari,

Moyamoya disease is a chronic progressive cerebrovascular disease characterized by bilateral occlusion or stenosis of arteries around circle of Willis. We report a case of 18-year-old female presented with recurrent episodes of headache and vertigo. On cerebral angiography, the patient was diagnosed to have moyamoya disease. On further evaluation, thrombophilia ... Read more >>

Case Rep Neurol Med (Case reports in neurological medicine)
[2018, 2018:7806873]

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Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

Dong-Xiao Li, Xi-Yuan Li, Hui Dong, Yu-Peng Liu, Yuan Ding, Jin-Qing Song, Ying Jin, Yao Zhang, Qiao Wang, Yan-Ling Yang,

BACKGROUND:Classical homocystinuria (homocysteinemia type 1, MIM# 236200) is a rare inherited disorder in Mainland China. This study aimed to identify mutations in the cystathionine β-synthase (CBS) gene which are associated with classical homocystinuria in nine Chinese patients. METHODS:Nine Chinese patients were diagnosed at the age of 5 years 4 months to 18 years ... Read more >>

World J Pediatr (World Journal of Pediatrics)
[2018, 14(2):197-203]

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Homocystinuria presenting as a calcified right atrial mass.

Tahleel Altaf Shera, Naseer Ahmed Choh, Faiz Altaf Shera, Azher Maqbool Khan,

Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous thromboembolic phenomena. We present a case of homocystinuria who presented to us as a calcified right atrial ... Read more >>

Ann Pediatr Cardiol (Annals of pediatric cardiology)
[2018, 11(2):214-216]

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L I van Gassen, L Bert van den Heuvel, Linda De Meirleir,

Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, long-term complications may develop. We have analyzed the biochemical and clinical responses in five patients with early ... Read more >>

JIMD Rep (JIMD reports)
[2019, 49(1):70-79]

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Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene.

Hong An, Chun-Qiu Fan, Jian-Gang Duan, Yi Ren, Kai Dong, Qian Zhang, Xun-Ming Ji, Xiao-Qin Huang,

Chin. Med. J. (Chinese medical journal)
[2018, 131(19):2368-2370]

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Disturbed homocysteine metabolism is associated with cancer.

Tauheed Hasan, Reetika Arora, Aniket Kumar Bansal, Reshmee Bhattacharya, Gurumayum Suraj Sharma, Laishram Rajendrakumar Singh,

Hyperhomocysteinemia/Homocysteinuria is characterized by an increased level of toxic homocysteine in the plasma. The plasma concentration of homocysteine is 5-15 μmol/L in healthy individuals, while in hyperhomocysteinemic patients, it can be as high as 500 μmol/L. While increased homocysteine levels can cause symptoms such as osteoporosis and eye lens dislocation, high homocysteine ... Read more >>

Exp. Mol. Med. (Experimental & molecular medicine)
[2019, 51(2):1-13]

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Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar,

5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombosis.Here we report the cases of two adult siblings who experienced ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):29]

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The Controversial Role of Homocysteine in Neurology: From Labs to Clinical Practice.

Rita Moretti, Paola Caruso,

Homocysteine (Hcy) is a sulfur-containing amino acid that is generated during methionine metabolism. Physiologic Hcy levels are determined primarily by dietary intake and vitamin status. Elevated plasma levels of Hcy can be caused by deficiency of either vitamin B12 or folate. Hyperhomocysteinemia (HHcy) can be responsible of different systemic and ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 20(1):]

Cited: 5 times

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Methylmalonic acidemia: Current status and research priorities.

Xiaoyan Zhou, Yazhou Cui, Jinxiang Han,

Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. Here, we review the ... Read more >>

Intractable Rare Dis Res (Intractable & rare diseases research)
[2018, 7(2):73-78]

Cited: 1 time

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Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study.

Khalid M Al-Batayneh, Mazhar Salim Al Zoubi, Murad Shehab, Bahaa Al-Trad, Khaldon Bodoor, Wesam Al Khateeb, Alaa A A Aljabali, Mohammad Al Hamad, Greg Eaton,

Background:Vitamin B12 (cobalamin) deficiency is a prevalent worldwide health concern. Several factors are associated with vitamin B12 deficiency including lifestyle, genetic predisposition, and malfunctions in the absorption and transport of vitamin B12. In the current case-control study, we aimed at investigating the association between MTHFR polymorphisms and vitamin B12 deficiency ... Read more >>

J Med Biochem (Journal of medical biochemistry)
[2018, 37(2):141-147]

Cited: 2 times

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Hyperhomocysteinemia and left ventricular thrombus.

Monish S Raut, Arun Maheshwari,

Ann Card Anaesth (Annals of cardiac anaesthesia)
[2017, 20(2):276-277]

Cited: 0 times

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Cystathionine β-Synthase in Physiology and Cancer.

Haoran Zhu, Shaun Blake, Keefe T Chan, Richard B Pearson, Jian Kang,

Cystathionine β-synthase (CBS) regulates homocysteine metabolism and contributes to hydrogen sulfide (H2S) biosynthesis through which it plays multifunctional roles in the regulation of cellular energetics, redox status, DNA methylation, and protein modification. Inactivating mutations in CBS contribute to the pathogenesis of the autosomal recessive disease CBS-deficient homocystinuria. Recent studies demonstrating ... Read more >>

Biomed Res Int (BioMed Research International)
[2018, 2018:3205125]

Cited: 2 times

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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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Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.

Natario L Couser, Julie McClure, Michael W Evans, Nathan R Haines, Susan K Burden, Joseph Muenzer,

The most common cause of isolated inherited homocysteinemia is a deficiency of the enzyme cystathionine β-synthase (CBS). Clinical manifestations of CBS deficiency can include ectopia lentis, thromboembolism, marfanoid habits, and intellectual disability. CBS deficiency, which affects the transsulfuration pathway, is marked biochemically by elevated serum homocysteine and plasma methionine. We ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2017, 38(1):91-94]

Cited: 2 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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