Research & Literature

Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.

Wen B, Li D, Li W, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015; (36(6)):853-9 doi:10.1007/s10072-015-2197-y.

Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.

Wang Z, Hong D, Zhang W, et al.

Neuromuscular disorders : NMD 2016; (26(2)):170-5.

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.

Liu XY, Wang ZQ, Wang DN, et al.

Chinese medical journal 2016; (129(2)):142-6 doi:10.4103/0366-6999.173438.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A, Acquaviva-Bourdain C, Souvannanorath S, et al.

Revue neurologique 2016; (172(3)):231-41.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, et al.

Journal of inherited metabolic disease 2017; (40(1)):75-101 doi:10.1007/s10545-016-9999-9.

Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.

Vieira P, Myllynen P, Perhomaa M, et al.

Neuropediatrics 2017; (48(3)):194-198 doi:10.1055/s-0037-1601447.

Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.

Creanza A, Cotugno M, Mazzaccara C, et al.

JIMD reports 2018; (39()):1-6 doi:10.1007/8904_2017_38.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, et al.

Molecular genetics and metabolism 2017; (122(4)):182-188 doi:10.1016/j.ymgme.2017.10.014.

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

van der Westhuizen FH, Smuts I, Honey E, et al.

Journal of the neurological sciences 2018; (384()):121-125 doi:10.1016/j.jns.2017.11.012.

[The 463rd case: rhabdomyolysis, acute kidney failure and acute hepatic failure].

Shi W, Wu D, Si N, et al.

Zhonghua nei ke za zhi 2018; (57(5)):381-384 doi:10.3760/cma.j.issn.0578-1426.2018.05.019.

Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.

Chokchaiwong S, Kuo YT, Lin SH, et al.

Free radical research 2018; (52(11-12)):1445-1455 doi:10.1080/10715762.2018.1500695.

A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.

Ryder B, Tolomeo M, Nochi Z, et al.

JIMD reports 2019; (45()):37-44 doi:10.1007/8904_2018_139.

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Missaglia S, Tavian D, Moro L, Angelini C

Lipids in health and disease 2018; (17(1)):254 doi:10.1186/s12944-018-0903-5.

Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.

Wang J, Wu JC, Yu XE, et al.

Medicine 2018; (97(48)):e13153 doi:10.1097/MD.0000000000013153.

Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.

Fischer T, Och U, Marquardt T

Nutrition (Burbank, Los Angeles County, Calif.) 2019; (60()):122-128 doi:10.1016/j.nut.2018.10.014.

Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.

Lin Y, Zheng Q, Zheng T, et al.

Clinica chimica acta; international journal of clinical chemistry 2019; (494()):106-111 doi:10.1016/j.cca.2019.03.1622.

Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.

Yamada K, Ito M, Kobayashi H, et al.

Brain & development 2019; (41(7)):638-642 doi:10.1016/j.braindev.2019.04.002.

Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.

Brandão SR, Ferreira R, Rocha H

Archives of physiology and biochemistry 2021; (127(3)):210-216 doi:10.1080/13813455.2019.1628065.

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.

Madsen KL, Preisler N, Buch AE, et al.

JIMD reports 2019; (46(1)):79-84 doi:10.1002/jmd2.12024.

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Yıldız Y, Talim B, Haliloglu G, et al.

Pediatric neurology 2019; (99()):69-75 doi:10.1016/j.pediatrneurol.2019.06.015.

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.

Henriques BJ, Lucas TG, Martins E, et al.

Current molecular medicine 2019; (19(7)):487-493 doi:10.2174/1566524019666190507114748.

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.

Dernoncourt A, Bouchereau J, Acquaviva-Bourdain C, et al.

Case reports in critical care 2019; (2019()):1598213 doi:10.1155/2019/1598213.

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene.

Chautard R, Laroche-Raynaud C, Lia AS, et al.

BMC medical genomics 2020; (13(1)):12 doi:10.1186/s12920-020-0665-6.

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Hu G, Zeng J, Wang C, et al.

Frontiers in pediatrics 2020; (8()):118 doi:10.3389/fped.2020.00118.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.

Ou M, Zhu L, Zhang Y, et al.

BMC medical genetics 2020; (21(1)):98 doi:10.1186/s12881-020-00995-2.

Late-onset MADD: a rare cause of cirrhosis and acute liver failure?

Soldath P, Lund A, Vissing J

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2020; (39(1)):19-23 doi:10.36185/2532-1900-003.

Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.

Stanescu S, Belanger-Quintana A, Alcalde Martin C, et al.

Case reports in pediatrics 2020; (2020()):1370293 doi:10.1155/2020/1370293.

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Xiao C, Astiazaran-Symonds E, Basu S, et al.

American journal of medical genetics. Part A 2020; (182(10)):2426-2431 doi:10.1002/ajmg.a.61786.

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Mereis M, Wanders RJA, Schoonen M, et al.

The international journal of biochemistry & cell biology 2021; (132()):105899 doi:10.1016/j.biocel.2020.105899.

Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease.

Henriques BJ, Katrine Jentoft Olsen R, Gomes CM, Bross P

Gene 2021; (776()):145407 doi:10.1016/j.gene.2021.145407.

A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan.

Kuo YC, Hsueh HW, Hsueh SJ, et al.

Neuromuscular disorders : NMD 2021; (31(3)):218-225 doi:10.1016/j.nmd.2021.01.006.

Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency.

Lin PY, Liang WC, Liao WA, Sun YT

BMC neurology 2021; (21(1)):93 doi:10.1186/s12883-021-02121-y.

Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.

Lin Y, Zhang W, Chen Z, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(5)):649-652 doi:10.1515/jpem-2020-0694.

ETF dehydrogenase advances in molecular genetics and impact on treatment.

Missaglia S, Tavian D, Angelini C

Critical reviews in biochemistry and molecular biology 2021; (56(4)):360-372 doi:10.1080/10409238.2021.1908952.

[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].

Division Of Genetics And Metabolomics Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health , Chen X, Sun Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(5)):414-418 doi:10.3760/cma.j.cn511374-20200829-00630.

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.

Siano MA, Mandato C, Nazzaro L, et al.

Frontiers in pediatrics 2021; (9()):672004 doi:10.3389/fped.2021.672004.

Role of RNA in Molecular Diagnosis of MADD Patients.

Nogueira C, Silva L, Marcão A, et al.

Biomedicines 2021; (9(5)) doi:10.3390/biomedicines9050507.

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.

Staretz-Chacham O, Amar S, Almashanu S, et al.

Genes 2021; (12(8)) doi:10.3390/genes12081140.

Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.

Lee YJ, Kim SY, Kim MJ, et al.

Neuromuscular disorders : NMD 2021; (31(11)):1194-1198 doi:10.1016/j.nmd.2021.07.006.

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Hagemeijer MC, Oussoren E, Ruijter GJG, et al.

JIMD reports 2021; (61(1)):12-18 doi:10.1002/jmd2.12223.

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.

Wen B, Tang S, Lv X, et al.

Human molecular genetics 2022; (31(7)):1115-1129 doi:10.1093/hmg/ddab308.

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.

Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K

European journal of human genetics : EJHG 2022; (30(8)):976-979 doi:10.1038/s41431-021-00995-7.

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.

Tang Z, Gao S, He M, et al.

Frontiers in neurology 2021; (12()):747360 doi:10.3389/fneur.2021.747360.

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.

Lupica A, Oteri R, Volta S, et al.

Frontiers in neurology 2022; (13()):815523 doi:10.3389/fneur.2022.815523.

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

De Pasquale L, Meo P, Fulia F, et al.

Italian journal of pediatrics 2022; (48(1)):164 doi:10.1186/s13052-022-01356-w.

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

Balci MC, Karaca M, Ergul Y, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2022; (64(1)):e15317 doi:10.1111/ped.15317.

Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.

Lin Y, Zheng W, Chen Y, et al.

Clinica chimica acta; international journal of clinical chemistry 2022; (537()):181-187 doi:10.1016/j.cca.2022.10.024.

A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.

Prasun P, Evans A, Cork E, et al.

American journal of medical genetics. Part A 2023; (191(4)):1089-1093 doi:10.1002/ajmg.a.63104.

Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency.

Yuan G, Zhang X, Chen T, Lin J

Frontiers in pediatrics 2022; (10()):1038440 doi:10.3389/fped.2022.1038440.

The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Singanamalla B, Paria P, Suthar R, et al.

Journal of pediatric genetics 2023; (12(2)):175-178 doi:10.1055/s-0041-1739288.

Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly.

Nana Sede Mbakop R, Forlemu AN, Manatsathit W

ACG case reports journal 2023; (10(5)):e01036 doi:10.14309/crj.0000000000001036.

Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.

Rao NN, Burns K, Manolikos C, Hodge S

BMJ case reports 2023; (16(5)) doi:10.1136/bcr-2022-252668.

"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report.

Keshri S, Goel AK, Johns J, Shah S

Indian journal of clinical biochemistry : IJCB 2023; (38(4)):545-549 doi:10.1007/s12291-021-01007-7.

Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency.

Ikeda N, Wada Y, Izumi T, et al.

Molecular genetics and metabolism reports 2024; (38()):101061 doi:10.1016/j.ymgmr.2024.101061.

Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II.

Kek HP, Tsai WL, Chiu PC, et al.

Children (Basel, Switzerland) 2024; (11(3)) doi:10.3390/children11030285.

Multiple acyl-Coa dehydrogenase deficiency: an underdiagnosed disorder in adults.

Meier C, Burns K, Manolikos C, et al.

Internal medicine journal 2024; (54(9)):1567-1571 doi:10.1111/imj.16473.

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Martino S, D'Addabbo P, Turchiano A, et al.

International journal of molecular sciences 2024; (25(17)) doi:10.3390/ijms25179637.

MADD-like pattern of acylcarnitines associated with sertraline use.

Ingoglia F, Tanfous M, Ellezam B, et al.

Molecular genetics and metabolism reports 2024; (41()):101142 doi:10.1016/j.ymgmr.2024.101142.

Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report.

Zhang Y, Chen L, Duan M

Frontiers in pediatrics 2025; (13()):1392927 doi:10.3389/fped.2025.1392927.

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series.

Viguera Altolaguirre C, Stergachis AB, Sweetser DA, Gold NB

The Neurohospitalist 2025; (15(4)):372-376 doi:10.1177/19418744251324959.

Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition.

Panichsillaphakit E, Laohathai P, Dhachpramuk D, Vatanavicharn N

BMJ case reports 2025; (18(5)) doi:10.1136/bcr-2025-265089.

Exposure to sertraline and ranolazine is common among adult patients with genetically uncharacterized lipid storage myopathy.

Jones FJS, Mirman I, Milone M, Liewluck T

Journal of the neurological sciences 2025; (475()):123599 doi:10.1016/j.jns.2025.123599.

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.

Penicaud R, Ferron JB, Valette X, et al.

JIMD reports 2025; (66(4)):e70035 doi:10.1002/jmd2.70035.

Management of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Pregnancy.

Shear MA, LaTray A, Chang IJ, et al.

Metabolites 2025; (15(7)) doi:10.3390/metabo15070432.

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.

Parvini F, Ajam-Hosseini M, Shadpour M

Orphanet journal of rare diseases 2025; (20(1)):590 doi:10.1186/s13023-025-04107-2.

Sertraline-Associated Riboflavin-Responsive Lipid Storage Myopathy: Report of Two Case.

Shaibani A, Taylor A

Muscle & nerve 2025; doi:10.1002/mus.70095.

Glutaric acidemia type 2 presenting as a surgical acute abdomen: a case of unnecessary exploratory laparotomy in an adult.

Bilal PK, Erkoç SK, Polat B, et al.

Archive of clinical cases 2026; (13(3)):108-111 doi:10.22551/2026.52.1303.10350.