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Maple syrup urine disease type 2(MSUD2)

MedGen UID:
343337
•Concept ID:
C1855371
•
Disease or Syndrome
Synonyms: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE II; Maple syrup urine disease, type II; MSUD type 2; MSUD2
 
Monarch Initiative: MONDO:0023693
OMIM®: 248600

Definition

A maple syrup urine disease caused by mutations in DBT. [from MONDO]

Professional guidelines

PubMed

Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.
Kilgore MB, Platis D, Lim T, Isenberg S, Pickens CA, Cuthbert C, Petritis K
Anal Chem 2023 Feb 14;95(6):3187-3194. Epub 2023 Feb 1 doi: 10.1021/acs.analchem.2c03098. PMID: 36724346Free PMC Article
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
Medina MF, Castro G, Falcon F, Cabello JF, Faundes V, Ruffato D, Salazar MF, Arias C, Peñaloza F, De La Parra A, Cornejo V
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):373-380. Epub 2021 Jul 21 doi: 10.1002/ajmg.c.31933. PMID: 34288399
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F
Cent Eur J Public Health 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. PMID: 31241292

Recent clinical studies

Etiology

Long-term results of liver transplantation for maple syrup urine disease: A single-center experience in Turkey.
Aras A, Avanaz A, Inan Aydemir N, Kayaalp E, Ulgen Tekerek N, Kisaoglu A, Demiryilmaz I, Soyucen E, Dursun O, Yilmaz A, Artan R, Aydinli B
Pediatr Transplant 2023 May;27(3):e14464. Epub 2023 Jan 1 doi: 10.1111/petr.14464. PMID: 36588190
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
Medina MF, Castro G, Falcon F, Cabello JF, Faundes V, Ruffato D, Salazar MF, Arias C, Peñaloza F, De La Parra A, Cornejo V
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):373-380. Epub 2021 Jul 21 doi: 10.1002/ajmg.c.31933. PMID: 34288399
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1147-1156. Epub 2021 Jun 30 doi: 10.1515/jpem-2020-0746. PMID: 34187135
Orthopaedic Problems in 35 Patients With Organic Acid Disorders.
Prasad N, Gottlich C, Nhan D, Hamosh A, Sponseller PD
J Pediatr Orthop 2021 Jul 1;41(6):e457-e463. doi: 10.1097/BPO.0000000000001812. PMID: 34096551
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH
World J Pediatr 2020 Aug;16(4):401-410. Epub 2020 Mar 19 doi: 10.1007/s12519-020-00349-1. PMID: 32193832

Diagnosis

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A
Sci Rep 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147Free PMC Article
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
Medina MF, Castro G, Falcon F, Cabello JF, Faundes V, Ruffato D, Salazar MF, Arias C, Peñaloza F, De La Parra A, Cornejo V
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):373-380. Epub 2021 Jul 21 doi: 10.1002/ajmg.c.31933. PMID: 34288399
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1147-1156. Epub 2021 Jun 30 doi: 10.1515/jpem-2020-0746. PMID: 34187135
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH
World J Pediatr 2020 Aug;16(4):401-410. Epub 2020 Mar 19 doi: 10.1007/s12519-020-00349-1. PMID: 32193832

Therapy

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
The implementation of neonatal peritoneal dialysis in a clinical setting.
Unal S, Bilgin L, Gunduz M, Uncu N, Azili MN, Tiryaki T
J Matern Fetal Neonatal Med 2012 Oct;25(10):2111-4. Epub 2012 Mar 16 doi: 10.3109/14767058.2012.665105. PMID: 22420616
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
Chuang JL, Cox RP, Chuang DT
J Clin Invest 1997 Aug 1;100(3):736-44. doi: 10.1172/JCI119586. PMID: 9239422Free PMC Article
Oral L-alloisoleucine loading studies in healthy subjects and in patients with maple syrup urine disease.
Schadewaldt P, Dalle-Feste C, Langenbeck U, Wendel U
Pediatr Res 1991 Nov;30(5):430-4. doi: 10.1203/00006450-199111000-00007. PMID: 1754297
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Chuang DT, Ku LS, Cox RP
Proc Natl Acad Sci U S A 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. PMID: 6954481Free PMC Article

Prognosis

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
Medina MF, Castro G, Falcon F, Cabello JF, Faundes V, Ruffato D, Salazar MF, Arias C, Peñaloza F, De La Parra A, Cornejo V
Am J Med Genet C Semin Med Genet 2021 Sep;187(3):373-380. Epub 2021 Jul 21 doi: 10.1002/ajmg.c.31933. PMID: 34288399
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1147-1156. Epub 2021 Jun 30 doi: 10.1515/jpem-2020-0746. PMID: 34187135
Orthopaedic Problems in 35 Patients With Organic Acid Disorders.
Prasad N, Gottlich C, Nhan D, Hamosh A, Sponseller PD
J Pediatr Orthop 2021 Jul 1;41(6):e457-e463. doi: 10.1097/BPO.0000000000001812. PMID: 34096551
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH
World J Pediatr 2020 Aug;16(4):401-410. Epub 2020 Mar 19 doi: 10.1007/s12519-020-00349-1. PMID: 32193832
Maple syrup urine disease: it has come a long way.
Chuang DT
J Pediatr 1998 Mar;132(3 Pt 2):S17-23. doi: 10.1016/s0022-3476(98)70523-2. PMID: 9546032

Clinical prediction guides

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K
Am J Med Genet A 2022 Sep;188(9):2738-2749. Epub 2022 Jul 7 doi: 10.1002/ajmg.a.62893. PMID: 35799415Free PMC Article
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A
Sci Rep 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. PMID: 35449147Free PMC Article
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH
World J Pediatr 2020 Aug;16(4):401-410. Epub 2020 Mar 19 doi: 10.1007/s12519-020-00349-1. PMID: 32193832
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Zeynalzadeh M, Tafazoli A, Aarabi A, Moghaddassian M, Ashrafzadeh F, Houshmand M, Taghehchian N, Abbaszadegan MR
J Pediatr Endocrinol Metab 2018 Jan 26;31(2):205-212. doi: 10.1515/jpem-2017-0305. PMID: 29306928
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Chuang DT, Ku LS, Cox RP
Proc Natl Acad Sci U S A 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. PMID: 6954481Free PMC Article

Recent systematic reviews

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H
J Inherit Metab Dis 2014 Nov;37(6):889-98. Epub 2014 Jul 15 doi: 10.1007/s10545-014-9729-0. PMID: 25022222

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