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Page 1
Maple Syrup Urine Disease.
Strauss KA, Puffenberger EG, Carson VJ. Strauss KA, et al. 2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301495 Free Books & Documents. Review.
Early and nonspecific signs of metabolic intoxication (i.e., irritability, hypersomnolence, anorexia) are accompanied by the presence of branched-chain alpha-ketoacids, acetoacetate, and beta-hydroxybutyrate in urine; Four to six days. ...Severe intoxication culmina …
Early and nonspecific signs of metabolic intoxication (i.e., irritability, hypersomnolence, anorexia) are accompanied by the presence of …
Thiamine-responsive inborn errors of metabolism.
Duran M, Wadman SK. Duran M, et al. J Inherit Metab Dis. 1985;8 Suppl 1:70-5. doi: 10.1007/BF01800663. J Inherit Metab Dis. 1985. PMID: 3930844 Review.
The amounts of thiamine which were used for long-term treatment varied from 20 to 2400 mg day-1. Additional treatment, such as the reduction of dietary branched chain amino acids in MSUD, could not be omitted in some cases. It has been shown that the v …
The amounts of thiamine which were used for long-term treatment varied from 20 to 2400 mg day-1. Additional treatment, such as the re …
Lessons from genetic disorders of branched-chain amino acid metabolism.
Chuang DT, Chuang JL, Wynn RM. Chuang DT, et al. J Nutr. 2006 Jan;136(1 Suppl):243S-9S. doi: 10.1093/jn/136.1.243S. J Nutr. 2006. PMID: 16365091 Free article. Review.
There are presently five known clinical phenotypes for MSUD, i.e., classic, intermediate, intermittent, thiamin-responsive, and dihydrolipoamide dehydrogenase (E3)-deficient, based on severity of the disease, response to thiamin therapy, and the …
There are presently five known clinical phenotypes for MSUD, i.e., classic, intermediate, intermittent, thiamin-responsive …
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. Chuang DT, et al. Proc Natl Acad Sci U S A. 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. Proc Natl Acad Sci U S A. 1982. PMID: 6954481 Free PMC article.
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive maple-syrup-urine disease (MSUD) was investigated in intact and disrupted fibroblast cultures from normals and patients with various forms of MSUD. Decarboxylatio …
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive maple-syrup-urine disease (MSUD …
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Upadia J, Noh G, Crivelly K, Smith J, Andersson HC. Upadia J, et al. Mol Genet Metab Rep. 2025 Aug 7;44:101244. doi: 10.1016/j.ymgmr.2025.101244. eCollection 2025 Sep. Mol Genet Metab Rep. 2025. PMID: 40823510 Free PMC article.
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. ...The patient demonstrated marked improvement in biochemical markers, increased toler …
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency of the branched-ch …
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. Billington CJ Jr, et al. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.
MSUD is caused by branched-chain alpha-ketoacid dehydrogenase deficiency due to biallelic loss of the protein products from the genes BCKDHA, BCKDHB, or DBT, while a distinct but related condition is caused by loss of DLD. ...Ultrahigh performance liquid chro …
MSUD is caused by branched-chain alpha-ketoacid dehydrogenase deficiency due to biallelic loss of the protein products …
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. Chuang JL, et al. J Clin Invest. 1997 Aug 1;100(3):736-44. doi: 10.1172/JCI119586. J Clin Invest. 1997. PMID: 9239422 Free PMC article.
Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, ment …
Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catab …
Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP. Chuang DT, et al. Mol Biol Med. 1991 Feb;8(1):49-63. Mol Biol Med. 1991. PMID: 1943690
Maple syrup urine disease (MSUD) is an autosomal recessive disorder in the oxidative decarboxylation of the branched-chain alpha-keto acids derived from leucine, isoleucine and valine. The enzyme deficient in MSUD, the branched-chain alph …
Maple syrup urine disease (MSUD) is an autosomal recessive disorder in the oxidative decarboxylation of the branched-chain …
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
Yang N, Han L, Gu X, Ye J, Qiu W, Zhang H, Gong Z, Zhang Y. Yang N, et al. Mol Genet Metab. 2012 Aug;106(4):412-8. doi: 10.1016/j.ymgme.2012.05.023. Epub 2012 Jun 6. Mol Genet Metab. 2012. PMID: 22727569
OBJECTIVE: Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1alpha, E1beta and E2 subunits of the branched-chain alpha-keto acid dehydrogenase complex, respectively. ...Only two p …
OBJECTIVE: Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode fo …
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. Jiang HH, et al. J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1147-1156. doi: 10.1515/jpem-2020-0746. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34187135 Review.
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. ...CONCLUSIONS: The clinical phenotype of neonatal MSUD in China belo …
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cas …
17 results