U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Maple syrup urine disease, thiamine-responsive, type II

MedGen UID:
864877
•Concept ID:
C4016440
•
Finding
Synonym: MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
 
OMIM®: 248610

Professional guidelines

PubMed

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
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Utilization of electron microscopy in the prenatal diagnosis of genetic disease.
Wyatt PR, Cox DM
Hum Hered 1977;27(1):22-37. doi: 10.1159/000152849. PMID: 403124

Recent clinical studies

Etiology

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y
J Pediatr Endocrinol Metab 2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164. PMID: 25781538
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.
Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT
Clin Biochem 2013 Dec;46(18):1787-92. Epub 2013 Aug 28 doi: 10.1016/j.clinbiochem.2013.08.009. PMID: 23994778
Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants.
Wasant P, Naylor EW, Liammongkolkul S
Southeast Asian J Trop Med Public Health 1999;30 Suppl 2:154-9. PMID: 11400758

Diagnosis

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y
J Pediatr Endocrinol Metab 2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164. PMID: 25781538
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.
Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT
Clin Biochem 2013 Dec;46(18):1787-92. Epub 2013 Aug 28 doi: 10.1016/j.clinbiochem.2013.08.009. PMID: 23994778
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF
J Inherit Metab Dis 2007 Aug;30(4):507-14. Epub 2007 Mar 8 doi: 10.1007/s10545-007-0543-9. PMID: 17347912
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Henneke M, Flaschker N, Helbling C, Müller M, Schadewaldt P, Gärtner J, Wendel U
Hum Mutat 2003 Nov;22(5):417. doi: 10.1002/humu.9187. PMID: 14517957

Therapy

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

Clinical prediction guides

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
Tandem mass neonatal screening in Taiwan--report from one center.
Huang HP, Chu KL, Chien YH, Wei ML, Wu ST, Wang SF, Hwu WL
J Formos Med Assoc 2006 Nov;105(11):882-6. doi: 10.1016/S0929-6646(09)60173-X. PMID: 17098689
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...