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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)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Anaemia With Anisopoikilocytosis ; Cad Deficiency ; Developmental Delay ; Epilepsy ; Uridine; Pyrimidine Biosynthesis; Mutations
Sprache englisch
Veröffentlichungsjahr 2020
HGF-Berichtsjahr 2020
ISSN (print) / ISBN 1663-9812
e-ISSN 1663-9812
Zeitschrift Frontiers in Pharmacology
Quellenangaben Band: 11, Heft: , Seiten: , Artikelnummer: 608737 Supplement: ,
Verlag Frontiers
Verlagsort Lausanne
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503292-001
Förderungen 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
DOI 10.3389/fphar.2020.608737
WOS ID WOS:000600387400001
Scopus ID 85098052879
PubMed ID 33364968
Erfassungsdatum 2021-02-05
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