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Intermittent maple syrup urine disease

MedGen UID:
78690
•Concept ID:
C0268569
•
Disease or Syndrome
Synonyms: Intermittent Maple Syrup Urine Disease; Maple Syrup Urine Disease, Intermittent
SNOMED CT: Intermittent maple syrup urine disease (405288003); Intermittent branched chain ketoaciduria (405288003); Partial branched chain ketoacid dehydrogenase deficiency (405288003); Intermittent branched-chain ketoaciduria (405288003)
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:0017053
Orphanet: ORPHA268173

Definition

Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. [from ORDO]

Professional guidelines

PubMed

Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR
Int J Dev Neurosci 2023 Oct;83(6):489-504. Epub 2023 Jun 20 doi: 10.1002/jdn.10283. PMID: 37340513
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

Diagnosis

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y
Eur J Med Genet 2020 Jun;63(6):103901. Epub 2020 Mar 6 doi: 10.1016/j.ejmg.2020.103901. PMID: 32151765
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
Guo Y, Liming L, Jiang L
Metab Brain Dis 2015 Dec;30(6):1395-400. Epub 2015 Aug 4 doi: 10.1007/s11011-015-9711-z. PMID: 26239723
Intermittent maple syrup urine disease: two case reports.
Axler O, Holmquist P
Pediatrics 2014 Feb;133(2):e458-60. Epub 2014 Jan 6 doi: 10.1542/peds.2013-0427. PMID: 24394677
Family with intermittent maple syrup urine disease.
Valman HB, Patrick AD, Seakins JW, Platt JW, Gompertz D
Arch Dis Child 1973 Mar;48(3):225-8. doi: 10.1136/adc.48.3.225. PMID: 4693464Free PMC Article
The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria).
Gompertz D, Draffan GH
Clin Chim Acta 1972 Aug;40(1):5-11. doi: 10.1016/0009-8981(72)90244-6. PMID: 5056643

Therapy

Valine-toxic intermittent maple syrup urine disease: a previously unrecognized variant.
Zipf WB, Hieber VC, Allen RJ
Pediatrics 1979 Feb;63(2):286-94. PMID: 440821

Prognosis

Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
Guo Y, Liming L, Jiang L
Metab Brain Dis 2015 Dec;30(6):1395-400. Epub 2015 Aug 4 doi: 10.1007/s11011-015-9711-z. PMID: 26239723
Intermittent maple syrup urine disease: two case reports.
Axler O, Holmquist P
Pediatrics 2014 Feb;133(2):e458-60. Epub 2014 Jan 6 doi: 10.1542/peds.2013-0427. PMID: 24394677
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y
J Hum Genet 1998;43(2):91-100. doi: 10.1007/s100380050047. PMID: 9621512

Clinical prediction guides

Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
Guo Y, Liming L, Jiang L
Metab Brain Dis 2015 Dec;30(6):1395-400. Epub 2015 Aug 4 doi: 10.1007/s11011-015-9711-z. PMID: 26239723
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y
J Hum Genet 1998;43(2):91-100. doi: 10.1007/s100380050047. PMID: 9621512

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