Research & Literature

L-Carnitine supplementation decreases DNA damage in treated MSUD patients.

Mescka CP, Guerreiro G, Hammerschmidt T, et al.

Mutation research 2015; (775()):43-7.

Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation.

Mescka CP, Guerreiro G, Donida B, et al.

Metabolic brain disease 2015; (30(5)):1167-74 doi:10.1007/s11011-015-9686-9.

Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD).

Campo K, Castro G, Hamilton V, et al.

JIMD reports 2016; (26()):69-76 doi:10.1007/8904_2015_500.

Living related versus deceased donor liver transplantation for maple syrup urine disease.

Feier F, Schwartz IV, Benkert AR, et al.

Molecular genetics and metabolism 2016; (117(3)):336-43.

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents.

Zeltner NA, Landolt MA, Baumgartner MR, et al.

JIMD reports 2017; (31()):1-9 doi:10.1007/8904_2016_545.

Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease.

Demirkol D, Şık G, Topal N, et al.

Blood purification 2016; (42(1)):27-32 doi:10.1159/000443783.

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.

Al-Shamsi A, Baker A, Dhawan A, Hertecant J

JIMD reports 2016; (30()):59-62 doi:10.1007/8904_2016_532.

Acrodermatitis dysmetabolica in an infant with maple syrup urine disease.

Flores K, Chikowski R, Morrell DS

Clinical and experimental dermatology 2016; (41(6)):651-4 doi:10.1111/ced.12876.

Heterozygous liver transplantation for maple syrup urine disease: First European reported case.

Roilides I, Xinias I, Mavroudi A, et al.

Pediatric transplantation 2016; (20(6)):846-50 doi:10.1111/petr.12736.

Interactions in the Metabolism of Glutamate and the Branched-Chain Amino Acids and Ketoacids in the CNS.

Yudkoff M

Neurochemical research 2017; (42(1)):10-18 doi:10.1007/s11064-016-2057-z.

Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features.

Chiong MA, Tan MA, Cordero CP, et al.

Molecular genetics and metabolism reports 2016; (9()):46-53 doi:10.1016/j.ymgmr.2016.10.004.

Neurocognitive profiles in MSUD school-age patients.

Bouchereau J, Leduc-Leballeur J, Pichard S, et al.

Journal of inherited metabolic disease 2017; (40(3)):377-383 doi:10.1007/s10545-017-0033-7.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Imtiaz F, Al-Mostafa A, Allam R, et al.

Molecular genetics and metabolism reports 2017; (11()):17-23 doi:10.1016/j.ymgmr.2017.03.006.

Branched-Chain Amino Acids and Brain Metabolism.

Sperringer JE, Addington A, Hutson SM

Neurochemical research 2017; (42(6)):1697-1709 doi:10.1007/s11064-017-2261-5.

Implications of Maple Syrup Urine Disease in Newborns.

Harris-Haman P, Brown L, Massey S, Ramamoorthy S

Nursing for women's health 2017; (21(3)):196-206 doi:10.1016/j.nwh.2017.04.009.

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.

Cheng A, Han L, Feng Y, et al.

Diagnostic and interventional radiology (Ankara, Turkey) 2017; (23(5)):398-402 doi:10.5152/dir.2017.16466.

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.

Abi-Wardé MT, Roda C, Arnoux JB, et al.

Journal of inherited metabolic disease 2017; (40(6)):783-792 doi:10.1007/s10545-017-0083-x.

Maple syrup urine disease: mechanisms and management.

Blackburn PR, Gass JM, Vairo FPE, et al.

The application of clinical genetics 2017; (10()):57-66 doi:10.2147/TACG.S125962.

Disorders of branched chain amino acid metabolism.

Manoli I, Venditti CP

Translational science of rare diseases 2016; (1(2)):91-110 doi:10.3233/TRD-160009.

Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease.

Uaariyapanichkul J, Saengpanit P, Damrongphol P, et al.

Case reports in dermatological medicine 2017; (2017()):3905658 doi:10.1155/2017/3905658.

Successful pregnancy in maple syrup urine disease: a case report and review of the literature.

Grünert SC, Rosenbaum-Fabian S, Schumann A, et al.

Nutrition journal 2018; (17(1)):51 doi:10.1186/s12937-018-0357-7.

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.

Porta F, Peruzzi L, Bonaudo R, et al.

Nephrology (Carlton, Vic.) 2018; (23(10)):957-961 doi:10.1111/nep.13409.

Imaging Findings in Maple Syrup Urine Disease: A Case Report.

Kathait AS, Puac P, Castillo M

Journal of pediatric neurosciences 2018; (13(1)):103-105 doi:10.4103/JPN.JPN_38_17.

Investigation of L - Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease.

Kumru B, Oztürk Hismi B

Journal of pediatric genetics 2019; (8(3)):133-136 doi:10.1055/s-0039-1691789.

Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation.

Celik N, Kelly B, Soltys K, et al.

Clinical transplantation 2019; (33(11)):e13721 doi:10.1111/ctr.13721.

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate.

Aygün F, Kıykım E, Aktuğlu-Zeybek Ç, et al.

The Turkish journal of pediatrics 2019; (61(1)):107-110.

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

Strauss KA, Carson VJ, Soltys K, et al.

Molecular genetics and metabolism 2020; (129(3)):193-206 doi:10.1016/j.ymgme.2020.01.006.

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.

Yıldız Y, Akcan Yıldız L, Dursun A, et al.

European journal of pediatrics 2020; (179(7)):1107-1114 doi:10.1007/s00431-020-03602-x.

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

Pode-Shakked N, Korman SH, Pode-Shakked B, et al.

European journal of medical genetics 2020; (63(6)):103901 doi:10.1016/j.ejmg.2020.103901.

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.

Collado MS, Armstrong AJ, Olson M, et al.

Molecular genetics and metabolism 2020; (130(3)):183-196 doi:10.1016/j.ymgme.2020.05.003.

The metabolic effect of α-ketoisocaproic acid: in vivo and in vitro studies.

Farias HR, Gabriel JR, Cecconi ML, et al.

Metabolic brain disease 2021; (36(1)):185-192 doi:10.1007/s11011-020-00626-y.

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.

Xu J, Jakher Y, Ahrens-Nicklas RC

International journal of molecular sciences 2020; (21(20)) doi:10.3390/ijms21207490.

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.

O'Reilly D, Crushell E, Hughes J, et al.

Journal of inherited metabolic disease 2021; (44(3)):639-655 doi:10.1002/jimd.12337.

Nutrient management in the intrapartum period in maternal maple syrup urine disease.

Takano C, Ishige M, Ogawa E, et al.

Molecular genetics and metabolism reports 2021; (26()):100711 doi:10.1016/j.ymgmr.2021.100711.

Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: Report of three cases.

Li Y, Liu X, Duan CF, et al.

World journal of clinical cases 2021; (9(8)):1844-1852 doi:10.12998/wjcc.v9.i8.1844.

Molecular basis of various forms of maple syrup urine disease in Chilean patients.

Campanholi DRR, Margutti AVB, Silva WA, et al.

Molecular genetics & genomic medicine 2021; (9(5)):e1616 doi:10.1002/mgg3.1616.

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Guilder L, Prada CE, Saenz S, et al.

Molecular genetics and metabolism reports 2021; (27()):100763 doi:10.1016/j.ymgmr.2021.100763.

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Sajeev M, Chin S, Ho G, et al.

International journal of neonatal screening 2021; (7(2)) doi:10.3390/ijns7020025.

Maple syrup urine disease: magnetic resonance imaging findings in three patients.

Allahwala A, Ahmed S, Afroze B

JPMA. The Journal of the Pakistan Medical Association 2021; (71(4)):1309-1313 doi:10.47391/JPMA.1341.

Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease.

Ewing CB, Soltys KA, Strauss KA, et al.

The Journal of pediatrics 2021; (237()):59-64.e1 doi:10.1016/j.jpeds.2021.06.028.

Domino transplantation for pediatric liver recipients: Obstacles, challenges, and successes.

Raghu VK, Carr-Boyd PD, Squires JE, et al.

Pediatric transplantation 2021; (25(8)):e14114 doi:10.1111/petr.14114.

EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.

Poothrikovil RP, Al Thihli K, Al Futaisi A

The Neurodiagnostic journal 2021; (61(3)):123-131 doi:10.1080/21646821.2021.1935628.

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.

Maguolo A, Rodella G, Giorgetti A, et al.

Genes 2022; (13(2)) doi:10.3390/genes13020233.

Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.

Amaral AU, Wajner M

Neurochemistry international 2022; (157()):105360 doi:10.1016/j.neuint.2022.105360.

Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.

Alili JM, Berleur MP, Husson MC, et al.

Orphanet journal of rare diseases 2022; (17(1)):202 doi:10.1186/s13023-022-02353-2.

A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease.

Piri-Moghadam H, Miller A, Pronger D, et al.

Journal of mass spectrometry and advances in the clinical lab 2022; (24()):107-117 doi:10.1016/j.jmsacl.2022.04.003.

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease.

Morton KF, Goetz RL, Linscott KB, Van Wagoner NJ

Cureus 2022; (14(4)):e24368 doi:10.7759/cureus.24368.

Maple syrup urine disease decompensation misdiagnosed as a psychotic event.

Higashimoto T, Whitehead MT, MacLeod E, et al.

Molecular genetics and metabolism reports 2022; (32()):100886 doi:10.1016/j.ymgmr.2022.100886.

Exposure to leucine alters glutamate levels and leads to memory and social impairment in zebrafish.

da Silva Lemos I, Wessler LB, Duarte MB, et al.

Metabolic brain disease 2022; (37(8)):2925-2935 doi:10.1007/s11011-022-01070-w.

Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease.

Sánchez-Pintos P, Meavilla S, López-Ramos MG, et al.

Frontiers in pediatrics 2022; (10()):969741 doi:10.3389/fped.2022.969741.

Parental coping with uncertainties along the severe combined immunodeficiency journey.

Kutsa O, Andrews SM, Mallonee E, et al.

Orphanet journal of rare diseases 2022; (17(1)):390 doi:10.1186/s13023-022-02554-9.

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.

Ziadlou M, MacDonald A

JIMD reports 2022; (63(6)):555-562 doi:10.1002/jmd2.12327.

PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

Ozcelik F, Arslan S, Ozguc Caliskan B, et al.

American journal of medical genetics. Part A 2023; (191(5)):1360-1365 doi:10.1002/ajmg.a.63129.

Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease.

Zhang JP, Zhu ZJ, Sun LY, et al.

Annals of transplantation 2023; (28()):e939893 doi:10.12659/AOT.939893.

Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.

Deon M, Guerreiro G, Girardi J, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023; (83(6)):489-504 doi:10.1002/jdn.10283.

Changes in branched-chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report.

Saeyup P, Tubjaroen C, Kamolvisit W, et al.

Paediatric anaesthesia 2024; (34(4)):366-370 doi:10.1111/pan.14842.

Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease.

Alkhayal FA, Al Haddad S, Bakraa RM, Alqahtani A

Dermatology reports 2023; (15(4)):9750 doi:10.4081/dr.2023.9750.

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Mengler K, Garbade SF, Gleich F, et al.

Pediatrics 2024; (154(2)) doi:10.1542/peds.2023-064370.

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

Schnabel-Besson E, Garbade SF, Gleich F, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12784 doi:10.1002/jimd.12784.

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.

Pretese R, Bonfanti C, Faraguna MC, et al.

Nutrients 2024; (16(18)) doi:10.3390/nu16183145.

Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis.

Scharre S, Mengler K, Schnabel E, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(1)):101303 doi:10.1016/j.gim.2024.101303.

Acrodermatitis dysmetabolica: lessons from two pediatric cases.

Kahraman AB, Cosar MS, Dogan EE, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(3)):299-304 doi:10.1515/jpem-2024-0542.

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.

Rostampour N, Dalili S, Moravej H, et al.

Orphanet journal of rare diseases 2025; (20(1)):8 doi:10.1186/s13023-025-03533-6.

Advancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study.

Fortis SP, Grier AL, Reisz JA, et al.

Journal of proteome research 2025; (24(6)):3088-3104 doi:10.1021/acs.jproteome.5c00166.

[Maple syrup urine disease decompensation - rare but life-threatening].

Vogt K, Baumgartner M, Timper K

Praxis 2025; (114(6)):257-260 doi:10.23785/PRAXIS.2025.06.010.

Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.

Upadia J, Noh G, Crivelly K, et al.

Molecular genetics and metabolism reports 2025; (44()):101244 doi:10.1016/j.ymgmr.2025.101244.

Pediatric liver transplant for maple syrup urine disease a single center experience.

Hassan I, Mahjoub S, Jalodi B, et al.

Frontiers in pediatrics 2025; (13()):1724099 doi:10.3389/fped.2025.1724099.

Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease.

Tosi M, Daly A, Evans S, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- mice.

Wang J, Turgeon CT, Loken PR, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2026; (34(8)):4569-4580 doi:10.1016/j.ymthe.2026.05.008.

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease.

Oral-Cebeci S, Aktuğlu-Zeybek Ç, Aslan B, et al.

European journal of pediatrics 2026; (185(6)).

Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.

Ghandora H, Alzahrani MK, Alsharif RL, et al.

Frontiers in pediatrics 2026; (14()):1803842 doi:10.3389/fped.2026.1803842.

Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.

Servais A, Abi-Wardé MT, Arnoux JB, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.

Uylaş K, Yazıcı H, Altınok YA, et al.

Metabolic brain disease 2026; (41(1)).