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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
OMIM®: 248600
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

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

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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