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[PMID]: 29353266
[Au] Autor:Seker Yilmaz B; Mungan NO; Kor D; Bulut D; Seydaoglu G; Öktem M; Ceylaner S
[Ad] Address:Department of Pediatric Metabolism, Mersin City Hospital, Mersin, Turkey, Phone: +905439699013, Fax: +903223386931.
[Ti] Title:Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
[So] Source:J Pediatr Endocrinol Metab;31(3):339-343, 2018 Mar 28.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile. RESULTS: Twenty-seven mutations were identified. The most commonly found variants were c.1330G>C (p.D444H), c.1595C>T (p.T532M), c.470G>A (p.R157H), and c.198_104delGCGGCTGinsTCC (p.C33Ffs ) with allele frequencies of 0.387, 0.175, 0.165 and 0.049, respectively. Three novel pathogenic and likely pathogenic variants were identified: p.W140* (c.419G>A), p.S319F (c.956C>T) and p.L69Hfs*24 (c.192_193insCATC). We also identified three mutations reported in just one patient in the past (p.V442Sfs*59 [c.1324delG], p.H447R [c.1340A>G] and p.198delV [c.592_594delGTC]). Although all of the patients were asymptomatic under the treatment of biotin, only one patient, who had the novel c.419G>A homozygous mutation became symptomatic during an episode of acute gastroenteritis with a presentation of ketosis and metabolic acidosis. Among the screened patients, 156 had partial and 47 had profound BD. CONCLUSIONS: We determined the mutation spectra of BD from the southeastern part of Turkey. The results of this study add three more mutations to the total number of mutations described as causing BD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process

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[PMID]: 29240078
[Au] Autor:Strovel ET; Cowan TM; Scott AI; Wolf B
[Ti] Title:ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
[So] Source:Genet Med;20(2):282, 2018 Feb.
[Is] ISSN:1530-0366
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:This corrects the article DOI: 10.1038/gim.2017.84.
[Pt] Publication type:PUBLISHED ERRATUM
[Em] Entry month:1712
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:In-Data-Review
[do] DOI:10.1038/gim.2017.201

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[PMID]: 29445937
[Au] Autor:Althonaian N; Alsultan A; Morava E; Alfadhel M
[Ad] Address:King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
[Ti] Title:Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
[So] Source:JIMD Rep;, 2018 Feb 15.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a Component of Oligomeric Golgi Complex 6 (COG6) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patients of COG6 gene defect with our patient.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:Publisher
[do] DOI:10.1007/8904_2018_88

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[PMID]: 29359854
[Au] Autor:Liu Z; Zhao X; Sheng H; Cai Y; Yin X; Chen X; Su L; Lu Z; Zeng C; Li X; Liu L
[Ad] Address:The Laboratory of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P.R. China.
[Ti] Title:Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
[So] Source:Am J Med Genet A;176(3):589-596, 2018 Mar.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described. Herein, for the first time, we reported the clinical features, BTD gene mutations and their functional studies of eight symptomatic children with BTD deficiency from southern China. Fatigue, hypotonia, proximal muscular weakness, hearing deficits, rash and respiratory problems are common clinical phenotype of our patients. Seizures are observed only in patients with profound BTD deficiency. Five novel mutations were detected, among which c.637delC (H213TfsTer51) was found in 50% of our patients and might be considered as a common mutation. In vitro studies confirmed three mild mutations c.1368A>C (Q456H), c.1613G>A (R538H), and c.644T>A (L215H) which retained 10-30% of wild type enzyme activity, and six severe mutations c.235C>T (R79C), c.1271G>C (C424S), c.1412G>A (C471Y), c.637delC (H213TfsTer51), c.395T>G (M132W), c.464T>C (L155P), and c.1493dupT (L498FfsTer13) which retained <10% of wild type enzyme activity. c.1330G>C (D444H) decreased the protein expression but not activity of BTD enzyme, and H213TfsTer51 was structurally damaging while L498FfsTer13 was functionally damaging. These results will be helpful in establishing the definitive diagnosis of BTD deficiency at the gene level, offering appropriate genetic counseling, and providing clues to structure/function relationships of the enzyme.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:In-Data-Review
[do] DOI:10.1002/ajmg.a.38601

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[PMID]: 29307858
[Au] Autor:Larson AA; Balasubramaniam S; Christodoulou J; Burrage LC; Marom R; Graham BH; Diaz GA; Glamuzina E; Hauser N; Heese B; Horvath G; Mattman A; van Karnebeek C; Lane Rutledge S; Williamson A; Estrella L; Van Hove JKL; Weisfeld-Adams JD
[Ad] Address:Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA. Electronic address: austin.larson@ucdenver.edu.
[Ti] Title:Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
[So] Source:Mitochondrion;, 2018 Jan 04.
[Is] ISSN:1872-8278
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Elevations of specific acylcarnitines in blood reflect carboxylase deficiencies, and have utility in newborn screening for life-threatening organic acidemias and other inherited metabolic diseases. In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial DNA (mtDNA) mutations in MT-ATP6 and in whom organic acidemias and multiple carboxylase deficiencies were excluded. Using retrospective chart review, we identified eleven individuals with abnormally elevated propionylcarnitine (C3) or hydroxyisovalerylcarnitine (C5OH) with mutations in MT-ATP6, most commonly m.8993T>G in high heteroplasmy or homoplasmy. Most patients were ascertained on newborn screening; most had normal enzymatic or molecular genetic testing to exclude biotinidase and holocarboxylase synthetase deficiencies. MT-ATP6 is associated with some cases of Leigh disease; clinical outcomes in our cohort ranged from death from neurodegenerative disease in early childhood to clinically and developmentally normal after several years of follow-up. These cases expand the biochemical phenotype associated with MT-ATP6 mutations, especially m.8993T>G, to include acylcarnitine abnormalities mimicking carboxylase deficiency states. Clinicians should be aware of this association and its implications for newborn screening, and consider mtDNA sequencing in patients exhibiting similar acylcarnitine abnormalities that are biotin-unresponsive and in whom other enzymatic deficiencies have been excluded.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[St] Status:Publisher

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[PMID]: 29214578
[Au] Autor:Castilla-Rodríguez I; Vallejo-Torres L; Couce ML; Valcárcel-Nazco C; Mar J; Serrano-Aguilar P
[Ad] Address:Departamento de Ingeniería Informática y de Sistemas, Universidad de La Laguna, La Laguna, Spain. icasrod@ull.es.
[Ti] Title:Cost-Effectiveness Methods and Newborn Screening Assessment.
[So] Source:Adv Exp Med Biol;1031:267-281, 2017.
[Is] ISSN:0065-2598
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Nowadays, health funding decisions must be supported by sound arguments in terms of both effectiveness and economic criteria. After more than half a century of newborn screening for rare diseases, the appropriate economic evaluation framework for these interventions is still challenging. The validity of standard methods for economic evaluation heavily relies on the availability of robust evidence, but collection of such evidence is precluded by the rareness of the conditions that may benefit from screening. Furthermore, there are a series of conceptual and methodological limitations that warrant further careful consideration when assessing the cost-effectiveness of newborn screening programs. In this chapter we provide a general overview of current economic evaluation methods and the challenges for their application to newborn screening programs.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171207
[Lr] Last revision date:171207
[St] Status:In-Data-Review
[do] DOI:10.1007/978-3-319-67144-4_16

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[PMID]: 29039164
[Au] Autor:Hong F; Huang X; Zhang Y; Yang J; Tong F; Mao H; Huang X; Zhou X; Yang R; Zhao Z
[Ad] Address:Department of Genetics and Metabolic Diseases, the Children's Hospital, Zhejiang University School of Medicine, Neonatal Screening Center of Zhejiang Province, Hangzhou 310003, China.
[Ti] Title:[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
[So] Source:Zhejiang Da Xue Xue Bao Yi Xue Ban;46(3):240-247, 2017 May 25.
[Is] ISSN:1008-9292
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To analyze the results and follow up data of screening for newborn organic aciduria in Zhejiang province. METHODS: The results and follow-up data of 1 861 262 newborns from Zhejiang province undergoing screening for organic aciduria during January 2009 and December 2016 were retrospectively analyzed. The acylcarnitine spectrum in urine samples was detected by tandem mass spectrum (MS/MS) and the positive patients were confirmed by urine gas chromatography mass spectrometry and/or gene analysis. RESULTS: Ninety two cases of organic aciduria were confirmed with a prevalence of 1:20 200. Among 40 cases of methylmalonic academia (MMA), 13 (32.5%) were of MMA simple type and 27 (67.5%) were combined type. Genetic analysis showed 6 cases of MUT type and 1 case of CblB type out of 7 patients with MMA simple type, 10 cases of CblC and 1 case of CblF out of 11 patients with combined type, respectively. Six patients had propionic academia with a prevalence of 1:310 200, 7 had isovaleric academia (1:265 900), 6 had glutaric academia type 1 (1:310 200), 27 had 3-methylcrotonyl-CoA carboxylase deficiency (MCC, 1:68 900), 1 had 3-hydroxy-3-methylglutaric aciduria (1:1 861 300), 2 had ß-ketothiolase deficiency (1:960 600), and 3 had biotinidase deficiency/holocarboxylase synthetase deficiency (1:620 400). Thirty-one patients had a disease onset at neonatal period, and 15 at post-neonatal period. Thirty-three patients had brain involvements or cranial imaging disorders. Three patients with MMA had kidney diseases or heomlytic uremic syndrome, and 3 had myocardial impairments. Twenty patients died during the follow-up. CONCLUSIONS: MMA is the most common newborn organic aciduria in Zhejiang province. Except MCC, most organic aciduria may lead to metabolism decompensation, complications or even death.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:In-Data-Review

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[PMID]: 29025919
[Au] Autor:Deschamps R; Savatovsky J; Vignal C; Fisselier M; Imbard A; Wolf B; Procter M; Gout O
[Ad] Address:Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.
[Ti] Title:Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
[So] Source:J Neurol Neurosurg Psychiatry;, 2017 Oct 12.
[Is] ISSN:1468-330X
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1710
[Cu] Class update date: 171114
[Lr] Last revision date:171114
[St] Status:Publisher

  9 / 614 MEDLINE  
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[PMID]: 28991128
[Au] Autor:Wolf B
[Ad] Address:*Research Administration, Henry Ford Hospital †Center for Molecular Medicine and Genetics, Wayne State University Detroit, MI.
[Ti] Title:Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
[So] Source:J Pediatr Hematol Oncol;, 2017 Oct 18.
[Is] ISSN:1536-3678
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[St] Status:Publisher
[do] DOI:10.1097/MPH.0000000000000983

  10 / 614 MEDLINE  
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[PMID]: 28971021
[Au] Autor:Porta F; Pagliardini V; Celestino I; Pavanello E; Pagliardini S; Guardamagna O; Ponzone A; Spada M
[Ad] Address:Department of Pediatrics, University of Torino, Italy.
[Ti] Title:Neonatal screening for biotinidase deficiency: A 30-year single center experience.
[So] Source:Mol Genet Metab Rep;13:80-82, 2017 Dec.
[Is] ISSN:2214-4269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The common missense mutation Q456H was found in 80% of patients with profound biotinidase deficiency. Of them, one patient harbored the novel mutation M399I in compound heterozygosity (M399I/Q456H). The complex allele A171T/D444H was found in two patients with profound biotinidase deficiency (in homozygosity and in compound heterozygosity with the R211H mutation, respectively) and in one patient with partial biotinidase deficiency (in compound heterozygosity with the protective allele D444H ). All detected patients were treated and followed up at our Center until present. Biotin therapy (10-20 mg/day) allowed the full prevention of clinical symptoms in all patients with no adverse effects. These excellent outcomes confirm that newborn screening for biotinidase deficiency is a very effective secondary prevention program.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.ymgmr.2017.08.005


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