ArticleMolecular genetics and metabolism2010
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Article in Molecular genetics and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran.Orphanet journal of rare diseases · 2026Article
- Multi-Omics Analysis Reveals 1-Propanol-Induced Pentadecanoic Acid Biosynthesis inBiomolecules · 2025Article
- Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria.Orphanet journal of rare diseases · 2025Article
- Long-term leucine supplementation increases body weight in goats by controlling appetite and muscle protein synthesis under protein-restricted conditions.Animal nutrition (Zhongguo xu mu shou yi xue hui) · 2025Article
- Ablation of secreted phosphoprotein-1 in hepatocytes increases fatty acid oxidation and ameliorates alcohol-associated liver disease.Alcohol, clinical & experimental research · 2024Article
- 206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.Frontiers in genetics · 2024Article
- Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.Journal of inherited metabolic disease · 2023Article
- Dietary amylose:amylopectin ratio influences the expression of amino acid transporters and enzyme activities for amino acid metabolism in the gastrointestinal tract of goats.The British journal of nutrition · 2022Article
- Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.Frontiers in pediatrics · 2022Article
- Article
- Transcriptomic Analysis of Short/Branched-Chain Acyl-Coenzyme a Dehydrogenase Knocked Out bMECs Revealed Its Regulatory Effect on Lipid Metabolism.Frontiers in veterinary science · 2021Article
- Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.Frontiers in genetics · 2019Article
- Aspects of Newborn Screening in Isovaleric Acidemia.International journal of neonatal screening · 2018Review
- The many ways tissue phagocytes respond to dying cells.Immunological reviews · 2017Review
- The Plant Hormone Cytokinin Confers Protection against Oxidative Stress in Mammalian Cells.PloS one · 2016Article
- Review
- Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.Journal of inherited metabolic disease · 2012Review
- Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 4 countries.
Funding
Abstract
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency, is a recently described autosomal recessive disorder of isoleucine metabolism. Most patients reported thus far have originated from a founder mutation in the Hmong Chinese population. While the first reported patients had severe disease, most of the affected Hmong have remained asymptomatic. In this study, we describe 11 asymptomatic non-Hmong patients brought to medical attention by elevated C5-carnitine found by newborn screening and one discovered because of clinical symptoms. The diagnosis of SBCAD deficiency was determined by metabolite analysis of blood, urine, and fibroblast samples. PCR and bidirectional sequencing were performed on genomic DNA from five of the patients covering the entire SBCAD (ACADSB) gene sequence of 11 exons. Sequence analysis of genomic DNA from each patient identified variations in the SBCAD gene not previously reported. Escherichia coli expression studies revealed that the missense mutations identified lead to inactivation or instability of the mutant SBCAD enzymes. These findings confirm that SBCAD deficiency can be identified through newborn screening by acylcarnitine analysis. Our patients have been well without treatment and call for careful follow-up studies to learn the true clinical impact of this disorder.
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