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: | |
| Mutations | |
| ReferencesFisher C, Fisher CW, Chuang D, and Cox R. (1991) Occurrence of a Tyr393>Asn (Y393N) Mutation in the El(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. 49: 429-434. PubMed ID: 1867199 1 Old Order Mennonite |
|
| Gene: | BCKDHA |
| Base Change: | T>A, at nucleotide 1312 |
| Amino Acid Change: | tyr 393 --> asn |
| Last updated: | 2010-07-22 |
| 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 A 146A(8):1088-98. PubMed ID: 1834826 |
| Fisher C, Fisher CW, Chuang D, and Cox R. (1991) Occurrence of a Tyr393>Asn (Y393N) Mutation in the El(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. 49: 429-434. PubMed ID: 1867199 |
| 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 |
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