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, vomiting, dystonia, seizures, apnea, developmental delay, growth deficiency, elevated amino acid, maple syrup urine odour Symptons in Acute Episodes Include; neurologic dysfunction, abdominal 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. Autosomal recessive |
| 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 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: | 2022-11-05 |
| 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 |
| 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. (2020) Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Mol Genet Metab Mar;129(3):193-206. PubMed ID: 31980395 |
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