Short chain Acyl CoA dehydrogenase deficiency

An autosomal recessive metabolic disorder of fatty acid beta-oxidation with variable clinical features; a severe form of the disorder can cause infantile onset of ACIDOSIS and neurologic impairment, whereas some patients develop only MYOPATHY. Asymptomatic patients with putative pathogenic mutations have also been identified. Caused by mutations in the ACADS gene. OMIM: 201470

Also Known As:

Networked: 115 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Medium chain acyl CoA dehydrogenase deficiency
2.	VLCAD deficiency
3.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency
4.	Methylmalonic acidemia
5.	Maple Syrup Urine Disease

Experts

1.	Gregersen, Niels: 10 articles (01/2021 - 09/2002)
2.	Vockley, Jerry: 7 articles (05/2014 - 09/2002)
3.	Gregersen, N: 6 articles (06/2010 - 01/2001)
4.	Wajner, Moacir: 5 articles (08/2014 - 12/2002)
5.	Matern, Dietrich: 5 articles (10/2010 - 04/2003)
6.	Leipnitz, Guilhian: 4 articles (08/2014 - 12/2002)
7.	Bross, Peter: 4 articles (03/2014 - 11/2003)
8.	Wanders, Ronald J A: 4 articles (10/2010 - 11/2003)
9.	Wijburg, Frits A: 4 articles (10/2010 - 11/2003)
10.	Olsen, Rikke K J: 3 articles (01/2021 - 10/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Short chain Acyl CoA dehydrogenase deficiency:

1.	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 01/01/1990 - "Molecular cloning and nucleotide sequence of cDNAs encoding human short chain acyl-CoA dehydrogenase and study of the molecular basis of human short chain acyl-CoA dehydrogenase deficiency." 07/01/2016 - "Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the first step in mitochondrial short-chain β-oxidation, and its deficiency is caused by mutations in the ACADS We sought to investigate the spectrum ACADS mutations and associated clinical manifestations in Korean patients with SCAD deficiency. " 06/01/2016 - "Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation." 03/01/2014 - "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare inherited autosomal recessive disorder with not yet well established mechanisms of disease. " 06/01/2010 - "Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency."
2.	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 05/01/1989 - "Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency." 01/01/2017 - "Here we report a an infant with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency diagnosed based on the characteristic biochemical findings and confirmed by genetic testing. " 01/01/2017 - "Reports on magnetic resonance imaging findings in patients with short chain acyl -Coenzyme A dehydrogenase (SCAD) deficiency, an autosomal recessive disorder caused by mutations in the acyl-Coenzyme A dehydrogenase (ACADS), are limited. " 08/01/1999 - "In addition, short chain acyl-CoA dehydrogenase deficiency (either true defects or polymorphism-related phenotypes) and particularly short-chain 3-hydroxy acyl-CoA dehydrogenase deficiency may present with clinical and biochemical features that closely resemble CVS. " 05/01/1990 - "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."
3.	Carnitine (L-Carnitine)FDA LinkGeneric 01/01/2014 - "The current study supports the treatment rationale of short-chain acyl-CoA dehydrogenase deficiency in humans with L-carnitine at an oral dosage of 100 mg/kg BW/day." 11/08/1984 - "Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency." 10/01/1993 - "A profile of cerebral and hepatic carnitine, ammonia, and energy metabolism in a model of organic aciduria: BALB/cByJ mouse with short-chain acyl-CoA dehydrogenase deficiency." 12/01/2015 - "In this report, we present results from the application of our validated UHPLC-MS/MS second-tier method for the quantification of total carnitine, free carnitine, butyrobetaine, and acylcarnitines to patient samples with known diagnoses: malonic acidemia, short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBD), 3-methyl-crotonyl carboxylase deficiency (3-MCC) or ß-ketothiolase deficiency (BKT), and methylmalonic acidemia (MMA). " 04/01/2011 - "Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia. "
4.	Proteins (Proteins, Gene)FDA Link 08/01/2008 - "The present study examines misfolding of variant SCAD proteins identified in patients with SCAD deficiency. " 03/01/2014 - "Proteins AK4 and NME1 deserve further investigation because of their involvement in energy reprogramming, cell survival and proliferation with relevance for SCAD deficiency and related metabolic disorders. " 06/01/2010 - "However, clinical significance of SCAD deficiency (SCADD) has been getting ambiguous, for some variants in the ACADS gene, which encodes the SCAD protein, has turned out to be widely prevailed among general populations. " 11/28/2003 - "The latter finding may indicate that accumulation of aggregated SCAD proteins may play a role in the pathogenesis of SCAD deficiency." 11/28/2003 - "Accordingly, the molecular pathogenesis of SCAD deficiency may rely on intramitochondrial protein quality control mechanisms, including degradation and aggregation of variant SCAD proteins. "
5.	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/01/2019 - "In the current study, the regression analysis was performed to identify short chain acyl-CoA dehydrogenase (SCAD) deficiency, medium chain acyl-CoA dehydrogenase (MCAD) deficiency, and very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. " 01/01/2018 - "Fourteen patients were diagnosed with FAODs by NBS at the age of 54.8 ± 4.8 days: 5 with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, 5 with medium chain acyl-CoA dehydrogenase (MCAD) deficiency, 1 with primary carnitine deficiency, 1 with carnitine palmitoyltransferase 1A (CPT1A) deficiency, 1 with long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein (LCAHD/MTP) deficiency, and 1 with short chain acyl-CoA dehydrogenase (SCAD) deficiency. "
6.	Fatty Acids (Saturated Fatty Acids)IBA 01/01/2018 - "Our case highlights the need to re-interrogate bioinformatics resources as they are constantly evolving, and is reminiscent of the short-chain acyl-CoA dehydrogenase deficiency (SCADD) story, where a functional defect in fatty acid oxidation has doubtful clinical ramifications." 10/01/2016 - "Medium- and short-chain acyl-CoA dehydrogenase deficiency is a disorder of fatty acid β-oxidation. " 06/01/2016 - "Short-chain acyl-coA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation caused by ACADS gene alterations. " 05/01/2012 - "Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical, genetic, and clinical characteristics. " 01/01/2012 - "Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. "
7.	ethylmalonic acid (ethylmalonate)IBA 09/17/2002 - "Two polymorphisms in the coding region of the SCAD gene, 511C>T (R147W) and 625G>A (G185S), have been shown to be associated with an increased level of ethylmalonic acid excretion in urine, a clinical characteristic of SCAD deficiency. " 01/01/2015 - "Ethylmalonic acid (EMA) accumulates in tissues and biological fluids of patients affected by short-chain acyl-CoA dehydrogenase deficiency (SCADD) and ethylmalonic encephalopathy, illnesses characterized by neurological and muscular symptoms. " 08/01/2014 - "Predominant accumulation of ethylmalonic acid (EMA) in tissues and biological fluids is a characteristic of patients affected by short chain acyl-CoA dehydrogenase deficiency and ethylmalonic encephalopathy. " 03/01/2013 - "Ethylmalonic acid (EMA) accumulates in tissues of patients affected by short-chain acyl-CoA dehydrogenase deficiency and ethylmalonic encephalopathy, illnesses characterized by variable neurological symptoms. " 01/01/2012 - "Tissue accumulation and high urinary excretion of ethylmalonic acid (EMA) occur in ethylmalonic encephalopathy (EE) and short chain acyl-CoA dehydrogenase deficiency (SCADD). "
8.	EnzymesIBA 10/01/2004 - "In both cases, SCAD deficiency was confirmed by enzyme analysis. " 04/01/1998 - "We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion. " 04/01/1998 - "Enzyme assay in cultured skin fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. " 09/01/1997 - "Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies." 04/01/1996 - "Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse."
9.	Systemic carnitine deficiencyIBA 01/01/2021 - "The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. " 06/25/2022 - "Among them, there were 3 cases of primary carnitine deficiency (PCD, 1/11 791), 1 case of short-chain acyl-CoA dehydrogenase deficiency (SCADD, 1/35 374) and 1 case of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD, 1/35 374). " 09/10/2023 - "The common neonatal genetic metabolic diseases in Changsha include primary carnitine deficiency, phenylalanine hydroxylase deficiency and short-chain acyl-CoA dehydrogenase deficiency. " 08/25/2021 - "Primary carnitine deficiency (16 cases, 38.10%) and short-chain acyl-CoA dehydrogenase deficiency (16 cases, 38.10%) were the most common, followed by very long-chain acyl-CoA dehydrogenase deficiency (6 cases, 14.29%), medium-chain acyl-CoA dehydrogenase deficiency (4 cases, 9.53%). " 09/01/2014 - "Of these patients, two had a Leigh-like disorder and one patient had each of the following diagnoses: ethylmalonic aciduria, nonketotic hyperglycinemia, hyperinsulinemic hypoglycemia, leukodystrophy, short-chain acyl-coenzyme A dehydrogenase deficiency, molybdenum cofactor deficiency, primary carnitine deficiency, and neonatal hypoglycemia due to panhypopituitarism. "
10.	Acyl Coenzyme A (Acyl CoA)IBA 01/01/2007 - "Muscle biopsy with enzymatic assay of short-chain acyl-coenzyme A revealed low enzymatic activity confirming the diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency. " 05/01/1997 - "We attempted to decompensate the acyl-CoA metabolism in mutant mice by chronic treatment with a riboflavin-deficient diet for 3 weeks to potentiate the SCAD deficiency. " 05/01/1997 - "In summary, we conclude that BALB/cByJ mice with SCAD deficiency, but with a functional urea cycle, might have an adequate adaptive mechanism to adjust to an excessive acyl-CoA load without hyperammonemia at the cerebral level. " 11/28/2023 - "The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl-CoA deficiency (20%), 13 with very long-chain acyl-CoA dehydrogenase deficiency (30%), three with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (7%), and five with short-chain acyl-CoA dehydrogenase deficiency (11%). " 08/23/2006 - "Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency (SCADD) is an autosomal recessive, clinically heterogeneous disorder with only 22 case reports published so far. "

Therapies and Procedures

1.	Therapeutics 01/01/2020 - "The long-term consequences and need for therapy in children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBDD) identified via newborn screening (NBS) remains controversial. "
2.	Decompression 09/01/2005 - "We present a 23-month-old girl with SCAD deficiency, who required posterior fossa decompression for type 1 Chiari malformation. "