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.

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

A Five-Year-Old Boy with GAII Administered with High-Dose Riboflavin: A Case Report

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Sana Taghiyar ◽  
Mahdieh Saatchi ◽  
Zeynab Eshaghiyeh
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Pediatric Population ◽  
Acid Oxidation ◽  
High Dose ◽  
Inborn Errors ◽  
Mitochondrial Fatty Acid Oxidation ◽  
Congenital Deficiency ◽  
Mitochondrial Fatty Acid

Background: Inborn errors of metabolism can cause a number of morbidities and mortality in pediatric population. Glutaric aciduria II (GAII) or multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare (i.e. <1:50 000) disorder of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. It is inherited in an autosomal recessive manner. Congenital deficiency of electron transfer flavoproteins and ETF dehydrogenase genes cause an illness that combines the features of impaired fatty acid oxidation and impaired oxidation of several aminoacides. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with glutaricaciduria-Type II. Case Presentation: We reported a five-year-old boy with muscle weakness of lower limb and inability to walk (myopathy), seizure due to hypoglycemia (as a result of prolonged fasting), hepatomegaly and rhabdomyolysis that treated with high dose riboflavin and he is well in follow up. Conclusion: Early diagnosis of mild cases and treatment with high dose riboflavin may have better prognosis.

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.

Medium- and Short-Chain L-3-Hydroxyl-Acetyl-Coenzyme A Deficiency: A New Identified Mutation in Four Cases

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S9-S9
Author(s):  
Sheng Feng ◽  
Deborah Cooper ◽  
Lu Tan ◽  
Gail Meyers ◽  
Michael Bennett
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Coenzyme A ◽  
Short Chain ◽  
Acid Oxidation ◽  
Sequencing Analysis ◽  
Mitochondrial Fatty Acid Oxidation ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Unusual Phenotype

Abstract Medium- and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (M/SCHAD, SCHAD) deficiency is a mitochondrial fatty acid oxidation disorder (FAOD). This enzyme catalyzes the penultimate step in fatty acid oxidation, the NAD+ dependent conversion of L-3-hydroxyacyl-CoA to 3-ketoacyl-CoA for medium- and short-chain acyl-CoA intermediates (C4-C12). The clinical presentations of most patients are recurrent hypoglycemia associated with hyperinsulinism. We presented four infants with C4 acyl-carnitine elevation identified by newborn screening that also showed an unusual phenotype of congenital hypotonia and gross developmental delay. Enzymatic studies confirmed the disease. Sequencing analysis of all the HADH coding exons on the four patients revealed a homozygous variant of a novel change (c.908G>T, p.Gly303Val). Western blot analysis subsequently confirmed the lack of the SCHAD protein. In addition, there is another previously reported benign variant (c.257T>C) identified in three infants. Therefore, we postulate that the HADH variant (c.908G>T) is indeed pathogenic and associated with a severe phenotype as evidenced by the cases described herein. Population screening for the c.908G>T mutation suggests this mutation to be common among Puerto Ricans. We recommend that SCHAD deficiency is included as part of the differential diagnosis of all infants with congenital hypotonia.

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

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

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