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

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

2012 ◽  
Vol 25 (7-8) ◽  
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
MinZhi Peng ◽  
CuiLi Liang ◽  
HuiYing Sheng ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
First Case ◽  
Chain Acyl

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

Perioperative Management of a Patient With Short Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report

2008 ◽  
Vol 66 (10) ◽  
pp. 2164-2165 ◽  
Author(s):  
James Kraus ◽  
Daniel Oreadi ◽  
Kalpakam Shastri ◽  
Morton Rosenberg
Keyword(s):  
Case Report ◽  
Perioperative Management ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Chain Acyl

scholarly journals A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

2015 ◽  
Vol 25 (2) ◽  
pp. 279-284 ◽  
Author(s):  
Barbka Repic Lampret ◽  
Simona Murko ◽  
Marusa Debeljak ◽  
Mojca Zerjav Tansek ◽  
Petja Fister ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
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.

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