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Thiamine-responsive maple syrup urine disease

MedGen UID:
199627
•Concept ID:
C0751285
•
Disease or Syndrome
Synonym: Thiamin-responsive maple syrup urine disease
SNOMED CT: Thiamin-responsive maple syrup urine disease (31368008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017054
OMIM®: 248600
Orphanet: ORPHA268184

Definition

Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine. [from ORDO]

Professional guidelines

PubMed

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH
Mol Genet Metab 2020 Sep-Oct;131(1-2):23-37. Epub 2020 Oct 6 doi: 10.1016/j.ymgme.2020.10.001. PMID: 33093005
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH
Mol Genet Metab 2020 Mar;129(3):193-206. Epub 2020 Jan 16 doi: 10.1016/j.ymgme.2020.01.006. PMID: 31980395
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

Recent clinical studies

Therapy

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT
Biochem Biophys Res Commun 1991 Jan 31;174(2):804-9. doi: 10.1016/0006-291x(91)91489-y. PMID: 1847055

Clinical prediction guides

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT
Biochem Biophys Res Commun 1991 Jan 31;174(2):804-9. doi: 10.1016/0006-291x(91)91489-y. PMID: 1847055

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