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Maple syrup urine disease, mild variant(MSUDMV)

MedGen UID:
767489
•Concept ID:
C3554575
•
Disease or Syndrome
Synonym: MSUDMV
 
Gene (location): PPM1K (4q22.1)
 
Monarch Initiative: MONDO:0014057
OMIM®: 615135

Definition

The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by Oyarzabal et al., 2013). For a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see 248600. [from OMIM]

Clinical features

From HPO
Hyperleucinemia
MedGen UID:
451032
•Concept ID:
C0268576
•
Disease or Syndrome
An increased concentration of leucine in the blood.
See: Feature record | Search on this feature
Hyperisoleucinemia
MedGen UID:
869234
•Concept ID:
C4023657
•
Disease or Syndrome
An increased concentration of isoleucine in the blood.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS
Am J Med Genet A 2020 Nov;182(11):2486-2500. Epub 2020 Aug 19 doi: 10.1002/ajmg.a.61806. PMID: 32812330

Recent clinical studies

Etiology

Molecular genetics of maple syrup urine disease in the Turkish population.
Gorzelany K, Dursun A, Coşkun T, Kalkanoğlu-Sivri SH, Gökçay GF, Demirkol M, Feyen O, Wendel U
Turk J Pediatr 2009 Mar-Apr;51(2):97-102. PMID: 19480318
Variant maple syrup urine disease (MSUD)--the entire spectrum.
Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U
J Inherit Metab Dis 2006 Dec;29(6):716-24. Epub 2006 Oct 25 doi: 10.1007/s10545-006-0276-1. PMID: 17063375
Liver transplantation in maple syrup urine disease.
Wendel U, Saudubray JM, Bodner A, Schadewaldt P
Eur J Pediatr 1999 Dec;158 Suppl 2:S60-4. doi: 10.1007/pl00014324. PMID: 10603101

Diagnosis

PPM1K defects cause mild maple syrup urine disease: The second case in the literature.
Ozcelik F, Arslan S, Ozguc Caliskan B, Kardas F, Ozkul Y, Dundar M
Am J Med Genet A 2023 May;191(5):1360-1365. Epub 2023 Jan 27 doi: 10.1002/ajmg.a.63129. PMID: 36706222
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS
Am J Med Genet A 2020 Nov;182(11):2486-2500. Epub 2020 Aug 19 doi: 10.1002/ajmg.a.61806. PMID: 32812330
Variant maple syrup urine disease (MSUD)--the entire spectrum.
Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U
J Inherit Metab Dis 2006 Dec;29(6):716-24. Epub 2006 Oct 25 doi: 10.1007/s10545-006-0276-1. PMID: 17063375
Metabolism of branched-chain amino acids in maple syrup urine disease.
Schadewaldt P, Wendel U
Eur J Pediatr 1997 Aug;156 Suppl 1:S62-6. doi: 10.1007/pl00014274. PMID: 9266218
Developmental profile of patients with maple syrup urine disease.
Nord A, van Doorninck WJ, Greene C
J Inherit Metab Dis 1991;14(6):881-9. doi: 10.1007/BF01800467. PMID: 1723442

Therapy

Oral L-alloisoleucine loading studies in healthy subjects and in patients with maple syrup urine disease.
Schadewaldt P, Dalle-Feste C, Langenbeck U, Wendel U
Pediatr Res 1991 Nov;30(5):430-4. doi: 10.1203/00006450-199111000-00007. PMID: 1754297
Mild variant of maple syrup urine disease.
Kovács J, Kiss P
Acta Paediatr Acad Sci Hung 1978;19(2):137-43. PMID: 707084
Mild variant of maple syrup urine disease.
Kodama S, Seki A, Hanabusa M, Morisita Y, Sakurai T
Eur J Pediatr 1976 Dec 9;124(1):31-6. doi: 10.1007/BF00452411. PMID: 1001326

Prognosis

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS
Am J Med Genet A 2020 Nov;182(11):2486-2500. Epub 2020 Aug 19 doi: 10.1002/ajmg.a.61806. PMID: 32812330
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.
Han B, Han B, Guo B, Liu Y, Cao Z
Pediatr Neonatol 2018 Oct;59(5):515-519. Epub 2018 Jan 6 doi: 10.1016/j.pedneo.2018.01.006. PMID: 29366676
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U
J Inherit Metab Dis 2007 Nov;30(6):903-9. Epub 2007 Oct 8 doi: 10.1007/s10545-007-0579-x. PMID: 17922217
Variant maple syrup urine disease (MSUD)--the entire spectrum.
Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U
J Inherit Metab Dis 2006 Dec;29(6):716-24. Epub 2006 Oct 25 doi: 10.1007/s10545-006-0276-1. PMID: 17063375
Developmental profile of patients with maple syrup urine disease.
Nord A, van Doorninck WJ, Greene C
J Inherit Metab Dis 1991;14(6):881-9. doi: 10.1007/BF01800467. PMID: 1723442

Clinical prediction guides

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS
Am J Med Genet A 2020 Nov;182(11):2486-2500. Epub 2020 Aug 19 doi: 10.1002/ajmg.a.61806. PMID: 32812330
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.
Han B, Han B, Guo B, Liu Y, Cao Z
Pediatr Neonatol 2018 Oct;59(5):515-519. Epub 2018 Jan 6 doi: 10.1016/j.pedneo.2018.01.006. PMID: 29366676
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodríguez-Pombo P
Hum Mutat 2013 Feb;34(2):355-62. Epub 2012 Dec 12 doi: 10.1002/humu.22242. PMID: 23086801
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U
J Inherit Metab Dis 2007 Nov;30(6):903-9. Epub 2007 Oct 8 doi: 10.1007/s10545-007-0579-x. PMID: 17922217

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    • ClinVar
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    • GTR
      Related information in GTR
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related information in PubMed Central Links
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