keyword
MENU ▼
Read by QxMD icon Read
search

Classical homocystinuria

keyword
https://www.readbyqxmd.com/read/27681349/peripheral-nerve-involvement-in-classic-homocystinuria-an-unusual-association
#1
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/27325427/newborn-screening-for-vitamin-b6-non-responsive-classical-homocystinuria-systematical-evaluation-of-a-two-tier-strategy
#2
Jürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, Kathrin V Schmidt, Junmin Fang-Hoffmann, Gwendolyn Gramer, Ghassan Abdoh, Noora Shahbeck, Hilal Al Rifai, Abdul Latif Al Khal, Gisela Haege, Chuan-Chi Chiang, David C Kasper, Bridget Wilcken, Peter Burgard, Georg F Hoffmann
BACKGROUND: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening. METHODS: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening strategy includes homocysteine (Hcy) measurements in every child, resulting in a unique dataset for evaluation of two-tier strategies...
June 21, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27183384/vision-of-correction-for-classic-homocystinuria
#3
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 to current treatment protocols. In this issue of the JCI, Bublil and colleagues demonstrate that enzyme replacement therapy (ERT) provides long-term amelioration of homocystinuria-associated phenotypes in CBS-deficient murine models...
June 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/26931358/targeting-cystathionine-beta-synthase-misfolding-in-homocystinuria-by-small-ligands-state-of-the-art-and-future-directions
#4
REVIEW
Tomas Majtan, Angel L Pey, June Ereño-Orbea, Luis Alfonso Martínez-Cruz, Jan P Kraus
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acids 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 betasynthase (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 non-functional aggregates or to undergo proteasome-dependent degradation...
2016: Current Drug Targets
https://www.readbyqxmd.com/read/26791043/thioethers-as-markers-of-hydrogen-sulfide-production-in-homocystinurias
#5
Viktor Kožich, Jakub Krijt, Jitka Sokolová, Petra Melenovská, Pavel Ješina, Roman Vozdek, Tomáš Majtán, Jan P Kraus
Two enzymes in the transsulfuration pathway of homocysteine -cystathionine beta-synthase (CBS) and gamma-cystathionase (CTH)-use cysteine and/or homocysteine to produce the important signaling molecule hydrogen sulfide (H2S) and simultaneously the thioethers lanthionine, cystathionine or homolanthionine. In this study we explored whether impaired flux of substrates for H2S synthesis and/or deficient enzyme activities alter production of hydrogen sulfide in patients with homocystinurias. As an indirect measure of H2S synthesis we determined by LC-MS/MS concentrations of thioethers in plasma samples from 33 patients with different types of homocystinurias, in 8 patient derived fibroblast cell lines, and as reaction products of seven purified mutant CBS enzymes...
July 2016: Biochimie
https://www.readbyqxmd.com/read/26639091/successive-mri-findings-of-reversible-cerebral-white-matter-lesions-in-a-patient-with-cystathionine-%C3%AE-synthase-deficiency
#6
Hideo Sasai, Nobuyuki Shimozawa, Takahiko Asano, Norio Kawamoto, Takahiro Yamamoto, Takeshi Kimura, Minako Kawamoto, Eiko Matsui, Toshiyuki Fukao
Cystathionine β-synthase (CBS) deficiency, well known as classical homocystinuria, is a rare autosomal recessive inborn error of homocysteine and sulfur metabolism. CBS converts homocysteine to cystathionine. The clinical features of untreated CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Cerebral white matter lesions (CWMLs), identified in magnetic resonance imaging (MRI), are related to various clinical conditions including ischemia, inflammation, demyelination, infection, a tumor, and metabolic disorders such as phenylketonuria...
2015: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/26055667/inherited-metabolic-disorders-in-turkish-patients-with-autism-spectrum-disorders
#7
Ertugrul Kiykim, Cigdem Aktuglu Zeybek, Tanyel Zubarioglu, Serif Cansever, Cengiz Yalcinkaya, Erdogan Soyucen, Ahmet Aydin
Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains unclear, although genetic defects may be detected in 10-20% of affected patients. Among these cases, the prevalence of inherited metabolic disorders (IMD) has not been extensively evaluated. IMDs responsible for ASDs are usually identified via clinical manifestations such as microcephaly, dysmorphic features, convulsions, and hepatosplenomegaly. Infrequently, patients with no additional clinical symptoms suggestive of an IMD may be diagnosed as having an idiopathic ASD...
February 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/25939784/novel-cystathionine-%C3%AE-synthase-gene-mutations-in-a-filipino-patient-with-classic-homocystinuria
#8
Catherine Lynn T Silao, Terence Diane F Fabella, Kahlil Izza D Rama, Sylvia C Estrada
BACKGROUND: Classic homocystinuria due to cystathionine β-synthase (CBS) deficiency is an autosomal recessive disorder of sulfur metabolism. Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis), skeletal abnormalities and a tendency to thromboembolic episodes. We present the first mutational analysis of CBS in a Filipino patient with classic homocystinuria. METHODS: Genomic DNA was extracted from peripheral blood collected from a diagnosed Filipino patient with classic homocystinuria...
October 2015: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/25712383/neurodevelopmental-and-cognitive-outcomes-of-classical-homocystinuria-experience-from-qatar
#9
Haitham El Bashir, Lubna Dekair, Yasmeen Mahmoud, Tawfeg Ben-Omran
BACKGROUND: Classical homocystinuria due to cystathionine β-synthase (CBS) deficiency (OMIM 236200) is a recessively inherited condition caused by mutations in the CBS gene. The founder mutation p.R336C accounts for almost all CBS deficiency in Qatar, affecting approximately 1 in 1,800 births, making it the most prevalent monogenic disease among the Qatari population. Untreated patients can have severe intellectual disability (ID), devastating multisystem complications and premature death...
2015: JIMD Reports
https://www.readbyqxmd.com/read/25638462/newborn-screening-for-homocystinuria-revealed-a-high-frequency-of-mat-i-iii-deficiency-in-iberian-peninsula
#10
Ana Marcão, María L Couce, Célia Nogueira, Helena Fonseca, Filipa Ferreira, José M Fraga, M Dolores Bóveda, Laura Vilarinho
Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine in plasma and homocystine in urine. This condition is characterized by a high clinical heterogeneity, which contributes to late clinical diagnosis, usually only made after irreversible damage has occurred. Treatment is effective if started before clinical symptoms. The analysis of methionine levels by tandem mass spectrometry (MS/MS) allows the newborn screening for homocystinuria, but false-positive results can be frequently obtained and lead to the unwanted identification of methionine adenosyl transferase (MAT I/III) deficiency...
2015: JIMD Reports
https://www.readbyqxmd.com/read/25516282/heterozygous-carriers-of-classical-homocystinuria-tend-to-have-higher-fasting-serum-homocysteine-concentrations-than-non-carriers-in-the-presence-of-folate-deficiency
#11
Yung-Hsiu Lu, Li-Mei Cheng, Yu-Hsiu Huang, Ming-Yu Lo, Tina Jui-Ting Wu, Hsiang-Yu Lin, Ting-Rong Hsu, Dau-Ming Niu
BACKGROUND & AIMS: Many studies have reported that serum total homocysteine (tHcy) levels in cystathionine-beta-synthase (CBS) carriers are usually normal and only elevated after a methionine load. However, the amount of methionine required for a loading test is non-physiological and is never reached with regular feeding. Therefore, CBS carriers do not seem to be at an increased risk of cardiovascular diseases. However, the risk of cardiovascular diseases of CBS carriers with folate deficiency has not been studied...
December 2015: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/25331909/chaperone-therapy-for-homocystinuria-the-rescue-of-cbs-mutations-by-heme-arginate
#12
Petra Melenovská, Jana Kopecká, Jakub Krijt, Aleš Hnízda, Kateřina Raková, Miroslav Janošík, Bridget Wilcken, Viktor Kožich
Classical homocystinuria is caused by mutations in the cystathionine β-synthase (CBS) gene. Previous experiments in bacterial and yeast cells showed that many mutant CBS enzymes misfold and that chemical chaperones enable proper folding of a number of mutations. In the present study, we tested the extent of misfolding of 27 CBS mutations previously tested in E. coli under the more folding-permissive conditions of mammalian CHO-K1 cells and the ability of chaperones to rescue the conformation of these mutations...
March 2015: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/24815046/body-composition-in-patients-with-classical-homocystinuria-body-mass-relates-to-homocysteine-and-choline-metabolism
#13
Soraia Poloni, Sandra Leistner-Segal, Isabel Cristina Bandeira, Vânia D'Almeida, Carolina Fischinger Moura de Souza, Poli Mara Spritzer, Kamila Castro, Tássia Tonon, Tatiéle Nalin, Apolline Imbard, Henk J Blom, Ida V D Schwartz
INTRODUCTION: Classical homocystinuria is a rare genetic disease caused by cystathionine β-synthase deficiency, resulting in homocysteine accumulation. Growing evidence suggests that reduced fat mass in patients with classical homocystinuria may be associated with alterations in choline and homocysteine pathways. This study aimed to evaluate the body composition of patients with classical homocystinuria, identifying changes in body fat percentage and correlating findings with biochemical markers of homocysteine and choline pathways, lipoprotein levels and bone mineral density (BMD) T-scores...
August 10, 2014: Gene
https://www.readbyqxmd.com/read/24515597/analysis-of-26-amino-acids-in-human-plasma-by-hplc-using-aqc-as-derivatizing-agent-and-its-application-in-metabolic-laboratory
#14
Gaurav Sharma, Savita Verma Attri, Bijaylaxmi Behra, Swapnil Bhisikar, Praveen Kumar, Minni Tageja, Sheetal Sharda, Pratibha Singhi, Sunit Singhi
The present study reports the simultaneous analysis of 26 physiological amino acids in plasma along with total cysteine and homocysteine by high-performance liquid chromatography (HPLC) employing 6-aminoquinolyl-N-hydroxysuccinimidyl carbamate (AQC) as precolumn derivatizing reagent. Separations were carried out using Lichrospher 100 RP-18e (5 μm) 250 × 4.0 mm column connected to 100 CN 4.0 × 4.0 mm guard column on a quaternary HPLC system and run time was 53 min. Linearity of the peak areas for different concentrations ranging from 2...
May 2014: Amino Acids
https://www.readbyqxmd.com/read/24445979/thirteen-patients-with-mat1a-mutations-detected-through-newborn-screening-13-years-experience
#15
S Chadwick, K Fitzgerald, B Weiss, C Ficicioglu
BACKGROUND: Methionine adenosyltransferase I/III (MATI/III) deficiency is the most common genetic cause of persistent isolated hypermethioninemia. Patients and Methods : This is a retrospective data analysis of 62 newborns with elevated methionine detected by newborn screening between January 2000 and June 2013. The clinical, biochemical, and molecular findings of a subset of these children with MAT1A mutations associated with MATI/III deficiency are presented. RESULTS: Of the 62 newborns with elevated methionine, 12 were identified as having classical homocystinuria; 37 were false-positives; and 13 were found to have isolated persistent hypermethioninemia in the absence of biochemical markers of homocystinuria, abnormal liver function studies, or other causes of elevated methionine...
2014: JIMD Reports
https://www.readbyqxmd.com/read/24382903/neonatal-aortic-thrombosis-as-a-result-of-congenital-homocystinuria
#16
Bonny Jasani, Ruchi Nanavati
BACKGROUND: Arterial thrombosis, that too in aorta is rare in neonates. CASE CHARACTERISTICS: A 4-day-old presented with non-recordable BP in lower limbs. Doppler ultrasonography of abdomen revealed aortic thrombus. OBSERVATION: Serum homocysteine level was elevated (25.5 umol/L). OUTCOME: Thrombus resolved with subcutaneous LMW heparin therapy for 2 weeks. MESSAGE: Congenital classic homocystinuria can rarely cause aortic thrombosis in neonatal period...
November 8, 2013: Indian Pediatrics
https://www.readbyqxmd.com/read/24365320/neurologic-manifestations-of-inherited-disorders-of-connective-tissue
#17
REVIEW
Stéphanie Debette, Dominique P Germain
Inherited disorders of connective tissue are single gene disorders affecting structure or function of the connective tissue. Neurological manifestations are classic and potentially severe complications of many such disorders. The most common neurological manifestations are cerebrovascular. Ischemic stroke is a classic complication of vascular Ehlers-Danlos syndrome (type IV), homocystinuria, and arterial tortuosity syndrome, and may occasionally be seen in Marfan syndrome and pseudoxanthoma elasticum with distinct underlying mechanisms for each disease...
2014: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/24211323/high-prevalence-of-cerebral-venous-sinus-thrombosis-cvst-as-presentation-of-cystathionine-beta-synthase-deficiency-in-childhood-molecular-and-clinical-findings-of-turkish-probands
#18
Mehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, Sefayet Karaca, Didem Yucel Yilmaz, Turgay Coskun, Hatice Serap Sivri, Aysegul Tokatli, Ali Dursun
Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients...
January 25, 2014: Gene
https://www.readbyqxmd.com/read/23974653/reduced-response-of-cystathionine-beta-synthase-cbs-to-s-adenosylmethionine-sam-identification-and-functional-analysis-of-cbs-gene-mutations-in-homocystinuria-patients
#19
Marisa I S Mendes, Henrique G Colaço, Desirée E C Smith, Rúben J J F Ramos, Ana Pop, Silvy J M van Dooren, Isabel Tavares de Almeida, Leo A J Kluijtmans, Mirian C H Janssen, Isabel Rivera, Gajja S Salomons, Paula Leandro, Henk J Blom
A reduced response of cystathionine beta-synthase (CBS) to its allosteric activator S-adenosylmethionine (SAM) has been reported to be a cause of CBS dysfunction in homocystinuria patients. In this work we performed a retrospective analysis of fibroblast data from 62 homocystinuria patients and found that 13 of them presented a disturbed SAM activation. Their genotypic background was identified and the corresponding CBS mutant proteins were produced in E. coli. Nine distinct mutations were detected in 22 independent alleles: the novel mutations p...
March 2014: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/23866722/the-methylenetetrahydrofolate-reductase-polymorphism-mthfr-c-677c-t-and-elevated-plasma-homocysteine-levels-in-a-u-s-pediatric-population-with-incident-thromboembolism
#20
Emily Joachim, Neil A Goldenberg, Timothy J Bernard, Jennifer Armstrong-Wells, Sally Stabler, Marilyn J Manco-Johnson
OBJECTIVE: Elevated plasma homocysteine (tHcy) and the MTHFR c.677C>T variant have been postulated to increase the risk of venous thromboembolism (VTE), although mechanisms and implications to pediatrics remain incompletely understood. The objectives of this study were to determine the prevalences of elevated tHcy and MTHFR variant in a pediatric population with VTE or arterial ischemic stroke (AIS), and to determine associations with thrombus outcomes. STUDY DESIGN: Subjects were enrolled in an institution-based prospective cohort of children with VTE or AIS...
August 2013: Thrombosis Research
keyword
keyword
45899
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"