Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Konstantin MechlerMarkus Ries

Abstract

Experimental treatment with substrate replacement was successfully performed in single cases with molybdenum cofactor deficiency type A. The objective of this study was to quantitate the yet undefined natural history in untreated patients to ultimately benefit knowledge in experimental treatments in the future. Systematic analysis of published cases with molybdenum cofactor deficiency. The main outcome measures were survival, initial cardinal disease features at onset, and diagnostic delay. The median survival for the overall population was 36 months. Initial cardinal disease features at onset were seizures (72%) as well as feeding difficulties (26%) and hypotonia (11%). In addition, developmental delay (9%), hemiplegia (2%), lens dislocation (2%), and hyperreflexia (1%) were reported. The median age at onset of the disease was the first day of life; the median age at diagnosis was 4.5 months. The median time to diagnosis (diagnostic delay) was 89 days. Molybdenum cofactor deficiency has its onset during the neonatal period and infancy. There is considerable diagnostic delay. Although seizures were the most frequent initial cardinal sign, molybdenum cofactor deficiency should be considered as a differential diagnosis in patient...Continue Reading

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Citations

Apr 8, 2016·Current Opinion in Chemical Biology·Guenter Schwarz
Jun 13, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maha S ZakiMohamed S Abdel Hamid
Apr 7, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthias ZielonkaMarkus Ries
Oct 20, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthias ZielonkaMarkus Ries
Nov 7, 2017·The Journal of Clinical Investigation·Avadh KumarAbdel Ali Belaidi
Sep 14, 2017·Journal of Inherited Metabolic Disease·Katrin HinderhoferMarkus Ries
Jan 26, 2018·Journal of Inherited Metabolic Disease·Simon Julius MayrSarah Catharina Grünert
Jan 24, 2019·Journal of Inherited Metabolic Disease·Matthew P WilsonPeter T Clayton
Jun 21, 2019·Disaster Medicine and Public Health Preparedness·Markus RiesKonstantin Mechler
Aug 28, 2020·Journal of Inherited Metabolic Disease·Sven F GarbadeMarkus Ries
Jun 8, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthias ZielonkaMarkus Ries
Feb 6, 2020·Cold Spring Harbor Molecular Case Studies·Stephen F KingsmoreDavid Dimmock
Mar 23, 2019·Molecular Genetics & Genomic Medicine·Barbara ScelsaPierangelo Veggiotti
Jan 28, 2021·CEN Case Reports·Edward Jin LeeAadil Kakajiwala
Feb 9, 2021·Molecular Genetics and Metabolism Reports·Yu AbeShigeo Kure

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