Condition: Deficiency of butyryl-CoA dehydrogenase
rs1057516421 in
ACADS gene and
Deficiency of butyryl-CoA dehydrogenase
PMID 22241096 2012 Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.
PMID 1692038 1990 Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.
PMID 9582344 1998 Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria.
PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
PMID 9499414 1998 Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
PMID 14506246 2003 Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.
PMID 11134486 2001 Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
PMID 18523805 2008 The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
PMID 16926354 2006 Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
PMID 18676165 2008 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
PMID 26055667 2016 Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
PMID 28018444 2016 Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
PMID 18951053 2008 Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
PMID 27466294 2016 Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
PMID 27938594 2016 [Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].
PMID 20376488 2010 Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
PMID 26274329 2015 Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
PMID 19800078 2010 Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.
PMID 28532786 2017 Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
PMID 30035407 2017 Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
PMID 28516284 2017 Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
PMID 22424739 2012 Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
PMID 24485985 2014 Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
PMID 16906473 2006 Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
PMID 29678161 2018 An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
PMID 21500142 2011 High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
PMID 12872838 2003 Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.
PMID 26110041 2015 A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
PMID 21325261 2011 Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
PMID 12736383 2003 Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
PMID 16546179 2006 Understanding mutations and protein stability through tripeptides.
PMID 18054510 2008 Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
PMID 21170680 2011 Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
PMID 21483766 2011 Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.
PMID 14568186 2003 A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.