A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

1993 ◽  
Vol 152 (11) ◽  
pp. 922-924 ◽  
Author(s):  
A. C. Sewell ◽  
J. Herwig ◽  
H. Böhles ◽  
P. Rinaldo ◽  
A. Bhala ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Chain Acyl ◽  
Ethylmalonic Aciduria

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

Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings

2017 ◽  
Vol 16 (04) ◽  
pp. 243-247
Author(s):  
Maria Papadopoulou ◽  
Iokasti Koutsampasopoulou ◽  
Despoina Tramma ◽  
Athanassios Evangeliou ◽  
Kyriaki Papadopoulou-Legbelou
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Inborn Errors ◽  
Metabolism Disorder ◽  
Asymptomatic Patients ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Brain Energy ◽  
Abnormal Brain

AbstractShort-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid metabolism disorder, which results in the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Evidence of genotype/phenotype correlation and neuroimaging characteristics is limited compared with other inborn errors of metabolism. We report a male patient with SCADD who initially presented with seizures, metabolic acidosis, microcephaly, and developmental delay with gradual amelioration of most symptoms. MRI/MRS revealed extended multifocal leukoencephalopathy, disturbed myelination, and abnormal brain energy metabolism with low choline/creatine ratio, which indicate the need for MRI/MRS follow-up even for asymptomatic patients with SCADD.

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