Literature DB >> 9544913

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

K M Gibson1, M J Bennett, E W Naylor, D H Morton.   

Abstract

Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9544913     DOI： 10.1016/s0022-3476(98)70032-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  15 in total

1.  The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Authors:  M E Gallardo; L R Desviat; J M Rodríguez; J Esparza-Gordillo; C Pérez-Cerdá; B Pérez; P Rodríguez-Pombo; O Criado; R Sanz; D H Morton; K M Gibson; T P Le; A Ribes; S R de Córdoba; M Ugarte; M A Peñalva
Journal:  Am J Hum Genet       Date:  2001-01-17       Impact factor: 11.025

2.  The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  M R Baumgartner; S Almashanu; T Suormala; C Obie; R N Cole; S Packman; E R Baumgartner; D Valle
Journal:  J Clin Invest       Date:  2001-02       Impact factor: 14.808

3.  Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Authors:  Jonathan Rips; Shlomo Almashanu; Hanna Mandel; Sagi Josephsberg; Tally Lerman-Sagie; Ayelet Zerem; Ben Podeh; Yair Anikster; Avraham Shaag; Anthony Luder; Orna Staretz Chacham; Ronen Spiegel
Journal:  J Inherit Metab Dis       Date:  2015-11-13       Impact factor: 4.982

4.  Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.

Authors:  A Boneh; M Baumgartner; M Hayman; H Peters
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 5.  The consequences of extended newborn screening programmes: do we know who needs treatment?

Authors:  B Wilcken
Journal:  J Inherit Metab Dis       Date:  2008-02-22       Impact factor: 4.982

6.  Newborn screening for lysosomal storage diseases: an ethical and policy analysis.

Authors:  Lainie Friedman Ross
Journal:  J Inherit Metab Dis       Date:  2011-12-22       Impact factor: 4.982

7.  Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.

Authors:  Brian Kirmse; Charlotte V Hobbs; Inga Peter; Bryan Laplante; Michele Caggana; Karen Kloke; Kimiyo Raymond; Marshall Summar; William Borkowsky
Journal:  Pediatr Infect Dis J       Date:  2013-02       Impact factor: 2.129

8.  Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Authors:  Lise Aksglaede; Mette Christensen; Jess H Olesen; Morten Duno; Rikke K J Olsen; Brage S Andresen; David M Hougaard; Allan M Lund
Journal:  JIMD Rep       Date:  2015-03-13

9.  Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Authors:  Matthias R Baumgartner; M Fernanda Dantas; Terttu Suormala; Shlomo Almashanu; Cecilia Giunta; Dolores Friebel; Boris Gebhardt; Brian Fowler; Georg F Hoffmann; E Regula Baumgartner; David Valle
Journal:  Am J Hum Genet       Date:  2004-09-09       Impact factor: 11.025

10.  Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Authors:  D D Koeberl; D S Millington; W E Smith; S D Weavil; J Muenzer; S E McCandless; P S Kishnani; M T McDonald; S Chaing; A Boney; E Moore; D M Frazier
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.