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Zhou, L.* ; Deng, J.* ; Stenton, S. ; Zhou, J.* ; Li, H.* ; Chen, C.* ; Prokisch, H. ; Fang, F.*

Case Report: Rapid treatment of uridine-responsive epileptic encephalopathy caused by CAD deficiency.

Front. Pharmacol. 11:608737 (2020)

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We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression, drug-refractory epilepsy, and anaemia with anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months of disease onset, allowed us to stop conventional anti-epileptic drugs and led to dramatic improvement in the clinical symptoms, with prompt cessation of seizures, resolution of anaemia, developmental progress, and prevention of development of severe and non-reversible manifestations. The remarkable recovery and prevention of advanced disease with prompt treatment, highlights the need to act immediately upon genetic diagnosis of a treatable disease. This further reinforces CAD deficiency as a treatable neurometabolic disorder and emphasises the need for a biomarker or genetic new born screening for early identification.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Anaemia With Anisopoikilocytosis ; Cad Deficiency ; Developmental Delay ; Epilepsy ; Uridine; Pyrimidine Biosynthesis; Mutations

ISSN (print) / ISBN 1663-9812

e-ISSN 1663-9812

Journal Frontiers in Pharmacology

Quellenangaben Volume: 11, Article Number: 608737

Publisher Frontiers

Publishing Place Lausanne

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants Children's Medicine Research Project of Beijing Children's Hospital, Capital Medical University
Cultivation Fund Project of the National Natural Science Foundation in Beijing Children's Hospital, Capital Medical University
BMBF through the European network of mitochondrial disorders (GENOMIT)
Prevention and Control of Major Chronic Non-Communicable Disease
special project for capital health development