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Case Report: Rapid treatment of uridine-responsive epileptic encephalopathy caused by CAD deficiency.
Front. Pharmacol. 11:608737 (2020)
Verlagsversion
Forschungsdaten
DOI
PMC
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
ISSN (print) / ISBN
1663-9812
e-ISSN
1663-9812
Zeitschrift
Frontiers in Pharmacology
Quellenangaben
Band: 11,
Artikelnummer: 608737
Verlag
Frontiers
Verlagsort
Lausanne
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
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
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