Research & Literature

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.

Tonin R, Caciotti A, Funghini S, et al.

BBA clinical 2016; (5()):114-9 doi:10.1016/j.bbacli.2016.03.004.

Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.

Fahnehjelm KT, Liu Y, Olsson D, et al.

Acta paediatrica (Oslo, Norway : 1992) 2016; (105(12)):1451-1460 doi:10.1111/apa.13536.

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Kim YM, Cheon CK, Park KH, et al.

Annals of clinical and laboratory science 2016; (46(4)):360-6.

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Tan JQ, Chen DY, Li ZT, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016; (18(10)):1019-1025.

[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].

Huang XW, Zhang Y, Yang JB, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2016; (54(12)):927-930 doi:10.3760/cma.j.issn.0578-1310.2016.12.011.

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

An SJ, Kim SZ, Kim GH, et al.

Korean journal of pediatrics 2016; (59(Suppl 1)):S45-S48 doi:10.3345/kjp.2016.59.11.S45.

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, et al.

Clinica chimica acta; international journal of clinical chemistry 2017; (471()):101-106 doi:10.1016/j.cca.2017.05.026.

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Bulut FD, Kör D, Şeker-Yılmaz B, et al.

Metabolic brain disease 2018; (33(3)):977-979 doi:10.1007/s11011-017-0152-8.

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

Nafisinia M, Menezes MJ, Gold WA, et al.

Molecular genetics and metabolism 2018; (123(3)):382-387 doi:10.1016/j.ymgme.2018.01.007.

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

Boyer M, Sowa M, Di Meo I, et al.

Molecular genetics and metabolism 2018; (124(1)):57-63 doi:10.1016/j.ymgme.2018.02.008.

Butyrate decreases its own oxidation in colorectal cancer cells through inhibition of histone deacetylases.

Han A, Bennett N, Ahmed B, et al.

Oncotarget 2018; (9(43)):27280-27292 doi:10.18632/oncotarget.25546.

Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.

Kılıç M, Şenel S, Karaer K, Ceylaner S

The Turkish journal of pediatrics 2017; (59(6)):708-710.

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure.

Silva AMS, Mendonça RH, Soares DC, et al.

Neurology 2018; (91(4)):187-190 doi:10.1212/WNL.0000000000005867.

Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency.

Lin Y, Peng W, Jiang M, et al.

Clinica chimica acta; international journal of clinical chemistry 2018; (487()):133-138 doi:10.1016/j.cca.2018.09.033.

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

Porta F, Chiesa N, Martinelli D, Spada M

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(2)):101-108.

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Muru K, Reinson K, Künnapas K, et al.

Molecular genetics & genomic medicine 2019; (7(9)):e915 doi:10.1002/mgg3.915.

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T, Ma J, Zhang Q, et al.

Frontiers in genetics 2019; (10()):1052 doi:10.3389/fgene.2019.01052.

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.

Adhikari AN, Currier RJ, Tang H, et al.

International journal of neonatal screening 2020; (6(2)) doi:10.3390/ijns6020041.

Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.

Grings M, Wajner M, Leipnitz G

Cellular and molecular neurobiology 2022; (42(3)):565-575 doi:10.1007/s10571-020-00976-2.

Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.

Eleftheriadou M, Medici-van den Herik E, Stuurman K, et al.

Molecular genetics & genomic medicine 2021; (9(2)):e1595 doi:10.1002/mgg3.1595.

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.

Suzuki Y, Ito S, Otani Y, et al.

Brain & development 2021; (43(5)):657-660 doi:10.1016/j.braindev.2021.01.001.

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.

Feng J, Yang C, Zhu L, et al.

Orphanet journal of rare diseases 2021; (16(1)):392 doi:10.1186/s13023-021-02018-6.

Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.

Zhang Z, Sun Y, Wang YY, et al.

Minerva pediatrics 2024; (76(5)):645-651 doi:10.23736/S2724-5276.21.06179-6.

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population.

Zhou W, Cai H, Li H, et al.

Frontiers in pediatrics 2021; (9()):757424 doi:10.3389/fped.2021.757424.

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.

Gong L, Yang N, Zhao J, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022; (51(3)):278-283 doi:10.3724/zdxbyxb-2022-0214.

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.

Breilyn MS, Kenny EE, Abul-Husn NS

Molecular genetics and metabolism 2023; (138(1)):106971 doi:10.1016/j.ymgme.2022.106971.

Valproic Acid-Associated Hyperammonemia: A Systematic Review.

Wong YJ, Fan J, Wan A, et al.

Journal of clinical psychopharmacology 2023; (43(3)):283-294 doi:10.1097/JCP.0000000000001689.

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.

Platt I, Bisgin A, Kilavuz S

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(11)):3827-3852 doi:10.1007/s10072-023-06904-8.

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.

Messina M, Arena A, Iacobacci R, et al.

Biomedicines 2023; (11(12)) doi:10.3390/biomedicines11123247.

A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene.

Wen B, Tang R, Tang S, et al.

Journal of human genetics 2024; (69(3-4)):125-131 doi:10.1038/s10038-023-01216-3.

Crosstalk between butyrate oxidation in colonocyte and butyrate-producing bacteria.

Park B, Kim JY, Riffey OF, et al.

iScience 2024; (27(9)):110853 doi:10.1016/j.isci.2024.110853.

Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report.

Ruiz-Martinez DA, Vega-Peniche ER, Quiñonez-Pacheco Y, et al.

SAGE open medical case reports 2026; (14()):2050313X251412221 doi:10.1177/2050313X251412221.

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?

Santacruz Reyes MD, Sass JO

Orphanet journal of rare diseases 2026; (21(1)):35 doi:10.1186/s13023-026-04207-7.

Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Qian G, Liu C, Xu Y, et al.

Molecular genetics and metabolism reports 2026; (46()):101292 doi:10.1016/j.ymgmr.2026.101292.