Literature DB >> 35347920

A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing.

Yaping Shen, Zhenzhen Hu, Jianbin Yang, Rulai Yang, Xinwen Huang.   

Abstract

A child with methylmalonic acidemia and homocysteinemia cblX type presented focal seizures and epileptic spasms in early infancy, but the tandem mass spectrometry tests showed negative results during neonatal screening or acute attack. Despite treated with a variety of antiepileptic drugs, the child died at age of The blood spot sample of the patient was retrospectively tested with ultrahigh performance liquid chromatography-tandem mass spectrometry, and the increased levels of methylmalonic acid and homocysteine were revealed. Whole exome sequencing showed that the proband had a c.202C>G(p.Q68E) hemizygous mutation in gene, which was inherited from his mother.

Entities:  

Keywords:  Case reports; Diagnosis; Homocysteinemia cblX type; Metabolism, inborn errors; Methylmalonic acidemia; Tandem mass spectrometry; Ultrahigh performance liquid chromatography

Mesh：

Year:  2021        PMID： 35347920      PMCID： PMC8931597          DOI： 10.3724/zdxbyxb-2021-0262

Source DB:  PubMed          Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban        ISSN： 1008-9292


  10 in total

1.  Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Authors:  A Piton; J Gauthier; F F Hamdan; R G Lafrenière; Y Yang; E Henrion; S Laurent; A Noreau; P Thibodeau; L Karemera; D Spiegelman; F Kuku; J Duguay; L Destroismaisons; P Jolivet; M Côté; K Lachapelle; O Diallo; A Raymond; C Marineau; N Champagne; L Xiong; C Gaspar; J-B Rivière; J Tarabeux; P Cossette; M-O Krebs; J L Rapoport; A Addington; L E Delisi; L Mottron; R Joober; E Fombonne; P Drapeau; G A Rouleau
Journal:  Mol Psychiatry       Date:  2010-05-18       Impact factor: 15.992

2.  Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Authors:  Anita M Quintana; Hung-Chun Yu; Alison Brebner; Mihaela Pupavac; Elizabeth A Geiger; Abigail Watson; Victoria L Castro; Warren Cheung; Shu-Huang Chen; David Watkins; Tomi Pastinen; Flemming Skovby; Bruce Appel; David S Rosenblatt; Tamim H Shaikh
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

3.  An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Authors:  Hung-Chun Yu; Jennifer L Sloan; Gunter Scharer; Alison Brebner; Anita M Quintana; Nathan P Achilly; Irini Manoli; Curtis R Coughlin; Elizabeth A Geiger; Una Schneck; David Watkins; Terttu Suormala; Johan L K Van Hove; Brian Fowler; Matthias R Baumgartner; David S Rosenblatt; Charles P Venditti; Tamim H Shaikh
Journal:  Am J Hum Genet       Date:  2013-09-05       Impact factor: 11.025

4.  HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Authors:  Lachlan A Jolly; Lam Son Nguyen; Deepti Domingo; Ying Sun; Simon Barry; Miroslava Hancarova; Pavlina Plevova; Marketa Vlckova; Marketa Havlovicova; Vera M Kalscheuer; Claudio Graziano; Tommaso Pippucci; Elena Bonora; Zdenek Sedlacek; Jozef Gecz
Journal:  Hum Mol Genet       Date:  2015-03-03       Impact factor: 6.150

5.  X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

Authors:  Emmanuel Scalais; Elise Osterheld; Christiane Weitzel; Linda De Meirleir; Frederic Mataigne; Geert Martens; Tamim H Shaikh; Curtis R Coughlin; Hung-Chun Yu; Michael Swanson; Marisa W Friederich; Gunter Scharer; Daniel Helbling; Jamie Wendt-Andrae; Johan L K Van Hove
Journal:  Pediatr Neurol       Date:  2017-01-07       Impact factor: 3.372

6.  A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Authors:  Costas Koufaris; Angelos Alexandrou; George A Tanteles; Violetta Anastasiadou; Carolina Sismani
Journal:  Biomed Rep       Date:  2015-12-18

7.  Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

Authors:  M Gérard; G Morin; A Bourillon; C Colson; S Mathieu; D Rabier; T Billette de Villemeur; H Ogier de Baulny; J F Benoist
Journal:  Eur J Med Genet       Date:  2015-01-13       Impact factor: 2.708

8.  A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Authors:  Lingli Huang; Lachlan A Jolly; Saffron Willis-Owen; Alison Gardner; Raman Kumar; Evelyn Douglas; Cheryl Shoubridge; Dagmar Wieczorek; Andreas Tzschach; Monika Cohen; Anna Hackett; Michael Field; Guy Froyen; Hao Hu; Stefan A Haas; Hans-Hilger Ropers; Vera M Kalscheuer; Mark A Corbett; Jozef Gecz
Journal:  Am J Hum Genet       Date:  2012-09-20       Impact factor: 11.025

9.  The role of HCFC1 in syndromic and non-syndromic intellectual disability.

Authors:  Victoria L Castro; Anita M Quintana
Journal:  Med Res Arch       Date:  2020-06-18

10.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Authors:  Patrick S Tarpey; Raffaella Smith; Erin Pleasance; Annabel Whibley; Sarah Edkins; Claire Hardy; Sarah O'Meara; Calli Latimer; Ed Dicks; Andrew Menzies; Phil Stephens; Matt Blow; Chris Greenman; Yali Xue; Chris Tyler-Smith; Deborah Thompson; Kristian Gray; Jenny Andrews; Syd Barthorpe; Gemma Buck; Jennifer Cole; Rebecca Dunmore; David Jones; Mark Maddison; Tatiana Mironenko; Rachel Turner; Kelly Turrell; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; Jon Teague; Adam Butler; Andrew Jenkinson; Mingming Jia; David Richardson; Rebecca Shepherd; Richard Wooster; M Isabel Tejada; Francisco Martinez; Gemma Carvill; Rene Goliath; Arjan P M de Brouwer; Hans van Bokhoven; Hilde Van Esch; Jamel Chelly; Martine Raynaud; Hans-Hilger Ropers; Fatima E Abidi; Anand K Srivastava; James Cox; Ying Luo; Uma Mallya; Jenny Moon; Josef Parnau; Shehla Mohammed; John L Tolmie; Cheryl Shoubridge; Mark Corbett; Alison Gardner; Eric Haan; Sinitdhorn Rujirabanjerd; Marie Shaw; Lucianne Vandeleur; Tod Fullston; Douglas F Easton; Jackie Boyle; Michael Partington; Anna Hackett; Michael Field; Cindy Skinner; Roger E Stevenson; Martin Bobrow; Gillian Turner; Charles E Schwartz; Jozef Gecz; F Lucy Raymond; P Andrew Futreal; Michael R Stratton
Journal:  Nat Genet       Date:  2009-04-19       Impact factor: 38.330
  10 in total

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