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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
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

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
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296

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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