Literature DB >> 33497533

Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.

Christopher M McGraw1,2,3, Sonal Mahida3, Parul Jayakar4, Hyun Yong Koh3, Alan Taylor3,5, Trevor Resnick6, Lance Rodan2,7,8, Marc A Schwartz9,8,10,11, Ayesha Ejaz9,8, Vijay G Sankaran9,8,10,11, Gerard Berry7,8, Annapurna Poduri2,3,11.   

Abstract

We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atrophy, and resolution of hematological abnormalities. Her older brother had a more severe course and only modest response to uridine started at 14 years old. Treatment of this progressive condition via uridine supplementation provides an example of precision diagnosis and treatment using clear outcome measures and biomarkers to monitor efficacy.
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

Entities:  

Year:  2021        PMID： 33497533      PMCID： PMC7951104          DOI： 10.1002/acn3.51272

Source DB:  PubMed          Journal:  Ann Clin Transl Neurol        ISSN： 2328-9503            Impact factor:   4.511


  7 in total

1.  CAD mutations and uridine-responsive epileptic encephalopathy.

Authors:  Johannes Koch; Johannes A Mayr; Bader Alhaddad; Christian Rauscher; Jörgen Bierau; Reka Kovacs-Nagy; Karlien L M Coene; Ingrid Bader; Monika Holzhacker; Holger Prokisch; Hanka Venselaar; Ron A Wevers; Felix Distelmaier; Tilman Polster; Steffen Leiz; Cornelia Betzler; Tim M Strom; Wolfgang Sperl; Thomas Meitinger; Saskia B Wortmann; Tobias B Haack
Journal:  Brain       Date:  2016-12-21       Impact factor: 13.501

2.  Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Authors:  Bobby G Ng; Lynne A Wolfe; Mie Ichikawa; Thomas Markello; Miao He; Cynthia J Tifft; William A Gahl; Hudson H Freeze
Journal:  Hum Mol Genet       Date:  2015-02-12       Impact factor: 6.150

Review 3.  Enzymology of Pyrimidine Metabolism and Neurodegeneration.

Authors:  Silvia Vincenzetti; Valeria Polzonetti; Daniela Micozzi; Stefania Pucciarelli
Journal:  Curr Med Chem       Date:  2016       Impact factor: 4.530

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

5.  Gene expression across mammalian organ development.

Authors:  Margarida Cardoso-Moreira; Jean Halbert; Delphine Valloton; Britta Velten; Chunyan Chen; Yi Shao; Angélica Liechti; Kelly Ascenção; Coralie Rummel; Svetlana Ovchinnikova; Pavel V Mazin; Ioannis Xenarios; Keith Harshman; Matthew Mort; David N Cooper; Carmen Sandi; Michael J Soares; Paula G Ferreira; Sandra Afonso; Miguel Carneiro; James M A Turner; John L VandeBerg; Amir Fallahshahroudi; Per Jensen; Rüdiger Behr; Steven Lisgo; Susan Lindsay; Philipp Khaitovich; Wolfgang Huber; Julie Baker; Simon Anders; Yong E Zhang; Henrik Kaessmann
Journal:  Nature       Date:  2019-06-26       Impact factor: 49.962

6.  A Patient With CAD Deficiency Responsive to Uridine and Literature Review.

Authors:  Ling Zhou; Han Xu; Tianshuang Wang; Ye Wu
Journal:  Front Neurol       Date:  2020-02-05       Impact factor: 4.003

7.  Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

Authors:  Francisco Del Caño-Ochoa; Bobby G Ng; Malak Abedalthagafi; Mohammed Almannai; Ronald D Cohn; Gregory Costain; Orly Elpeleg; Henry Houlden; Ehsan Ghayoor Karimiani; Pengfei Liu; M Chiara Manzini; Reza Maroofian; Michael Muriello; Ali Al-Otaibi; Hema Patel; Edvardson Shimon; V Reid Sutton; Mehran Beiraghi Toosi; Lynne A Wolfe; Jill A Rosenfeld; Hudson H Freeze; Santiago Ramón-Maiques
Journal:  Genet Med       Date:  2020-05-28       Impact factor: 8.822
  7 in total
  2 in total

1.  Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.

Authors:  Ali Al-Otaibi; Alaa AlAyed; Asma Al Madhi; Leena Saeed; Bobby G Ng; Hudson H Freeze; Mohammed Almannai
Journal:  Mol Genet Metab Rep       Date:  2021-12-16

2.  A Treatable Genetic Disease Caused by CAD Mutation.

Authors:  Xia Peng; Li-Ping Xia; Hai-Ju Zhang; Jing Zhang; Shi-Qian Yu; Shun Wang; Yu-Ming Xu; Baozhen Yao; Jingping Ye
Journal:  Front Pediatr       Date:  2022-03-09       Impact factor: 3.418
  2 in total

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