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Intermediate maple syrup urine disease

MedGen UID:
301223
•Concept ID:
C1621920
•
Disease or Syndrome
Synonyms: Intermediate Maple Syrup Urine Disease; Maple Syrup Urine Disease, Intermediate
SNOMED CT: Intermediate maple syrup urine disease (405287008); Intermediate branched chain ketoaciduria (405287008)
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:0017052
OMIM®: 248600
Orphanet: ORPHA268162

Definition

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntermediate maple syrup urine disease
Follow this link to review classifications for Intermediate maple syrup urine disease in Orphanet.

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

Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.
Bindu PS, Shehanaz KE, Christopher R, Pal PK, Ravishankar S
J Child Neurol 2007 Jul;22(7):911-3. doi: 10.1177/0883073807304003. PMID: 17715290
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT
J Clin Invest 1995 Mar;95(3):954-63. doi: 10.1172/JCI117804. PMID: 7883996Free PMC Article

Clinical prediction guides

Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD).
Skvorak KJ, Hager EJ, Arning E, Bottiglieri T, Paul HS, Strom SC, Homanics GE, Sun Q, Jansen EE, Jakobs C, Zinnanti WJ, Gibson KM
Biochim Biophys Acta 2009 Oct;1792(10):1004-10. Epub 2009 Aug 19 doi: 10.1016/j.bbadis.2009.08.006. PMID: 19699299Free PMC Article
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.
Bindu PS, Shehanaz KE, Christopher R, Pal PK, Ravishankar S
J Child Neurol 2007 Jul;22(7):911-3. doi: 10.1177/0883073807304003. PMID: 17715290
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT
J Clin Invest 1995 Mar;95(3):954-63. doi: 10.1172/JCI117804. PMID: 7883996Free PMC Article
A distinct variant of intermediate maple syrup urine disease.
Gonzalez-Rios MC, Chuang DT, Cox RP, Schmidt K, Knopf K, Packman S
Clin Genet 1985 Feb;27(2):153-9. doi: 10.1111/j.1399-0004.1985.tb00203.x. PMID: 3978850

Supplemental Content

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