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Classical maple syrup urine disease

MedGen UID:
78689
Concept ID:
C0268568
Disease or Syndrome
Synonyms: Classic Maple Syrup Urine Disease; Classical Maple Syrup Urine Disease; Maple Syrup Urine Disease, Classic; Maple Syrup Urine Disease, Classical
SNOMED CT: Severe branched chain ketoacid dehydrogenase deficiency (54064006); Classical maple syrup urine disease (54064006)
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).
 
Monarch Initiative: MONDO:0017051
Orphanet: ORPHA268145

Definition

Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death. [from MedlinePlus Genetics]

Term Hierarchy

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

Professional guidelines

PubMed

Clow CL, Reade TM, Scriver CR
Pediatrics 1981 Dec;68(6):856-62. PMID: 6798541

Recent clinical studies

Etiology

Díaz VM, Camarena C, de la Vega Á, Martínez-Pardo M, Díaz C, López M, Hernández F, Andrés A, Jara P
J Pediatr Gastroenterol Nutr 2014 Nov;59(5):636-9. doi: 10.1097/MPG.0000000000000469. PMID: 24979318
Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, Shellmer D, Shneider B, Vockley J, Strauss KA
J Pediatr 2012 Jan;160(1):116-21.e1. Epub 2011 Aug 11 doi: 10.1016/j.jpeds.2011.06.033. PMID: 21839471Free PMC Article
Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Moser AB, Morton DH
Mol Genet Metab 2010 Apr;99(4):333-45. Epub 2010 Jan 12 doi: 10.1016/j.ymgme.2009.12.007. PMID: 20061171Free PMC Article
le Roux C, Murphy E, Lilburn M, Lee PJ
J Inherit Metab Dis 2006 Feb;29(1):190-4. doi: 10.1007/s10545-006-0204-4. PMID: 16601890
Clow CL, Reade TM, Scriver CR
Pediatrics 1981 Dec;68(6):856-62. PMID: 6798541

Diagnosis

Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M
Clin Chim Acta 2018 Aug;483:33-38. Epub 2018 Apr 16 doi: 10.1016/j.cca.2018.04.020. PMID: 29673582
Lee WT
Brain Dev 2011 Oct;33(9):745-52. Epub 2011 Jul 30 doi: 10.1016/j.braindev.2011.06.014. PMID: 21803516
le Roux C, Murphy E, Lilburn M, Lee PJ
J Inherit Metab Dis 2006 Feb;29(1):190-4. doi: 10.1007/s10545-006-0204-4. PMID: 16601890
Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B
Int J Neurosci 1994 Nov;79(1-2):21-45. doi: 10.3109/00207459408986065. PMID: 7744549
Naughten ER, Jenkins J, Francis DE, Leonard JV
Arch Dis Child 1982 Dec;57(12):918-21. doi: 10.1136/adc.57.12.918. PMID: 7181520Free PMC Article

Therapy

Evans M, Truby H, Boneh A
J Pediatr 2017 Sep;188:163-172. Epub 2017 Jun 17 doi: 10.1016/j.jpeds.2017.05.048. PMID: 28629683
Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Moser AB, Morton DH
Mol Genet Metab 2010 Apr;99(4):333-45. Epub 2010 Jan 12 doi: 10.1016/j.ymgme.2009.12.007. PMID: 20061171Free PMC Article
Tornqvist K, Tornqvist H
Acta Ophthalmol Scand Suppl 1996;(219):48-9. doi: 10.1111/j.1600-0420.1996.tb00386.x. PMID: 8741119
Treacy E, Clow CL, Reade TR, Chitayat D, Mamer OA, Scriver CR
J Inherit Metab Dis 1992;15(1):121-35. doi: 10.1007/BF01800354. PMID: 1583867
Van Calcar SC, Harding CO, Davidson SR, Barness LA, Wolff JA
Am J Med Genet 1992 Nov 15;44(5):641-6. doi: 10.1002/ajmg.1320440523. PMID: 1481826

Prognosis

Díaz VM, Camarena C, de la Vega Á, Martínez-Pardo M, Díaz C, López M, Hernández F, Andrés A, Jara P
J Pediatr Gastroenterol Nutr 2014 Nov;59(5):636-9. doi: 10.1097/MPG.0000000000000469. PMID: 24979318
Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, Shellmer D, Shneider B, Vockley J, Strauss KA
J Pediatr 2012 Jan;160(1):116-21.e1. Epub 2011 Aug 11 doi: 10.1016/j.jpeds.2011.06.033. PMID: 21839471Free PMC Article
Lee WT
Brain Dev 2011 Oct;33(9):745-52. Epub 2011 Jul 30 doi: 10.1016/j.braindev.2011.06.014. PMID: 21803516
Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P
AJNR Am J Neuroradiol 1990 Nov-Dec;11(6):1219-28. PMID: 2124065Free PMC Article
Naughten ER, Jenkins J, Francis DE, Leonard JV
Arch Dis Child 1982 Dec;57(12):918-21. doi: 10.1136/adc.57.12.918. PMID: 7181520Free PMC Article

Clinical prediction guides

Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M
Clin Chim Acta 2018 Aug;483:33-38. Epub 2018 Apr 16 doi: 10.1016/j.cca.2018.04.020. PMID: 29673582
Evans M, Truby H, Boneh A
J Pediatr 2017 Sep;188:163-172. Epub 2017 Jun 17 doi: 10.1016/j.jpeds.2017.05.048. PMID: 28629683
Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B
Int J Neurosci 1994 Nov;79(1-2):21-45. doi: 10.3109/00207459408986065. PMID: 7744549
Ruch T, Kerr D
Am J Clin Nutr 1982 Feb;35(2):217-28. doi: 10.1093/ajcn/35.2.217. PMID: 7064884
Clow CL, Reade TM, Scriver CR
Pediatrics 1981 Dec;68(6):856-62. PMID: 6798541

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