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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.
Hyperisoleucinemia
MedGen UID:
869234
Concept ID:
C4023657
Disease or Syndrome
An increased concentration of isoleucine in the blood.

Professional guidelines

PubMed

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

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
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
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

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
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
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
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
Schadewaldt P, Wendel U
Eur J Pediatr 1997 Aug;156 Suppl 1:S62-6. doi: 10.1007/pl00014274. PMID: 9266218

Therapy

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
Kovács J, Kiss P
Acta Paediatr Acad Sci Hung 1978;19(2):137-43. PMID: 707084
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

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
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
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
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
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

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
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
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
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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