Amish, Mennonite, and Hutterite
Genetic Disorder Database

Maple syrup urine disease

Disorder
OMIM #: #248600  (Click to access OMIM database)
Disorder: Maple syrup urine disease 
Also known as: MSUD
Branched-chain ketoacidurea
BCKD deficiency
Keto acid decarboxylase deficiency 
Clinical
Phenotype: Symptoms in the neonate include; ketonuria, lethargy, feeding difficulties, dystonia, seizures, apnea, global developmental delay/mental retardation, growth deficiency Symptons in Acute Episodes Include; neurologic dysfunction, epigastric pain, muscle weakness, dystonia, ataxia, stupor, hallucinations 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
ReferencesMorton D, Strauss K, Robinson D, Puffenberger EG, and Kelley R. (2002) Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients. Pediatrics 109: 999-1008.
PubMed ID: 12042535
Puffenberger EG. (2003) Genetic heritage of the Old Order Mennonites of Southeastern Pennsylvania. Am. J. Med. Genet 121C:18–31.
PubMed ID: 12888983
1   Old Order Mennonite  
Gene: BCKDHA
Base Change: T>A, at nucleotide 1312
Amino Acid Change: tyr 438 --> asn
ReferencesHenneke M, Flaschker N, Helbling C, Müller M, Schadewaldt P, Gärtner J, Wendel U. (2003) Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat Nov;22(5):417.
PubMed ID: 14517957
Mroch A, Davis-Keppen L, Matthes C, Stein Q. (2014) Identification of a founder mutation for maple syrup urine disease in Hutterites. S D Med Apr;67(4):141-3.
PubMed ID: 24791375
2   Hutterite  
Gene: BCKDHB
Base Change: c.595_596delAG
Amino Acid Change: Frame shift
Last updated: 2018-08-30 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet 146A(8):1088-98.
PubMed ID: 18348266 
Carleton SM, Peck DS, Grasela J, Dietiker KL, Phillips CL. (2010) DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities. Genet Test Mol Biomarkers Apr;14(2):205-8.
PubMed ID: 20136525 
Fisher CR, Fisher CW, Chuang DT, Cox RP. (1991) Occurrence of a Tyr393>Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Am J Hum Genet Aug;49(2):429-34.
PubMed ID: 1867199 
Henneke M, Flaschker N, Helbling C, Müller M, Schadewaldt P, Gärtner J, Wendel U. (2003) Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat Nov;22(5):417.
PubMed ID: 14517957 
Love-Gregory LD, Dyer JA, Grasela J, Hillman RE, Phillips CL. (2001) Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community. J Inherit Metab Dis Jun;24(3):393-403.
PubMed ID: 11486905 
Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S. (1992) Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification. J Inherit Metab Dis 15(2):181-7.
PubMed ID: 1356170 
Morton D, Strauss K, Robinson D, Puffenberger EG, and Kelley R. (2002) Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients. Pediatrics 109: 999-1008.
PubMed ID: 12042535 
Mroch A, Davis-Keppen L, Matthes C, Stein Q. (2014) Identification of a founder mutation for maple syrup urine disease in Hutterites. S D Med Apr;67(4):141-3.
PubMed ID: 24791375 
Puffenberger EG. (2003) Genetic heritage of the Old Order Mennonites of Southeastern Pennsylvania. Am. J. Med. Genet 121C:18–31.
PubMed ID: 12888983 

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