P326 In vitro fibroblast model to study pathophysiology of short-chain acyl-CoA dehydrogenase deficiency (SCADD) compared to carnitine palmitoyl transferase 2 deficiency (CPT 2) and mitochondrial trifunctional protein (MTP) deficiency

2009 ◽  
Vol 13 ◽  
pp. S121-S122
Author(s):  
Z. Zolkipli ◽  
C.B. Pedersen ◽  
A.M. Lamhonwah ◽  
N. Gregersen ◽  
I. Tein
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Carnitine Palmitoyl Transferase ◽  
Chain Acyl ◽  
Mitochondrial Trifunctional Protein ◽  
Fibroblast Model

scholarly journals Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants

PLoS ONE ◽  
2011 ◽  
Vol 6 (4) ◽  
pp. e17534 ◽  
Author(s):  
Zarazuela Zolkipli ◽  
Christina B. Pedersen ◽  
Anne-Marie Lamhonwah ◽  
Niels Gregersen ◽  
Ingrid Tein
Keyword(s):  
Oxidative Stress ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Chain Acyl

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency

2003 ◽  
Vol 337 (1-2) ◽  
pp. 103-113 ◽  
Author(s):  
Sarah P Young ◽  
Dietrich Matern ◽  
Niels Gregersen ◽  
Robert D Stevens ◽  
Deeksha Bali ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Chain Acyl

scholarly journals First case report of short-chain acyl-CoA dehydrogenase deficiency in China

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P181
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
MinZhi Peng ◽  
CuiLi Liang ◽  
HuiYing Sheng ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
First Case ◽  
Chain Acyl

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 ◽  
Vol 311 (19) ◽  
pp. 1232-1236 ◽  
Author(s):  
Douglass M. Turnbull ◽  
Kim Bartlett ◽  
David L. Stevens ◽  
K. George M. M. Alberti ◽  
G. John Gibson ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Short Chain ◽  
Lipid Storage Myopathy ◽  
Chain Acyl

scholarly journals Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

2020 ◽  
Vol 6 (3) ◽  
pp. 58
Author(s):  
MariaAnna Messina ◽  
Alessia Arena ◽  
Agata Fiumara ◽  
Riccardo Iacobacci ◽  
Concetta Meli ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Family Members ◽  
Clinical Manifestations ◽  
Vitamin B12 Deficiency ◽  
Short Chain ◽  
Tandem Mass ◽  
Chain Acyl

Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of maternal diseases such as vitamin B12 deficiency or 3-MethylcrotonylCoA-carboxylase deficiency (3MCC). NS became mandatory in Sicily in December 2017. Here we report NS data collected between December 2017 and April 2020. Our results show that tandem mass spectrometry is a powerful tool for discovery of underestimated disease in newborns and their family members. Our panel included short chain acyl-CoA dehydrogenase deficiency (SCADD). Here, we report that results of our investigation led to reassessment of SCADD prevalence in our population. The infant and adult patients diagnosed in our study had previously not shown overt symptoms.

scholarly journals High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Association with Epilepsy of Unknown Origin in Childhood

2011 ◽  
Vol 42 (01) ◽  
pp. 13-17 ◽  
Author(s):  
B. T. van Maldegem ◽  
S. F. Kloosterman ◽  
W. J. Janssen ◽  
P. B. Augustijn ◽  
J. H. van der Lee ◽  
...  
Keyword(s):  
The Netherlands ◽  
Dehydrogenase Deficiency ◽  
Unknown Origin ◽  
Short Chain ◽  
High Prevalence ◽  
Chain Acyl
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