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Maple Syrup Urine Disease
Protein
Biochemical Problem
The mutations cause a disruption in the metabolism of the braided chain amino acids. The genes work together make proteins to break down Valine, Isoleucine, and Leucine. Usually found in meat, milk, and eggs.
A mutation in the gene causes the proteins to not break food down and not to function properly and the Valine, Isoleucine, and Leucine build up in body to toxic levels.
Organismal Phenotype
- Irritability
- Lethargy
- Poor feeding
- Abnormal movements
- increased spasticity
- Convulsions & deep in coma if not treated
- Maple syrup odor of urine and earwax within a day or two of birth
These symptoms occur because the right proteins aren't being produced so main body functions don't function properly.
Research Article
Title: Direct analysis of dried blood spots by in-line desorption
combined with high-resolution chromatography and mass
spectrometry for quantification of maple syrup urine disease
biomarkers leucine and isoleucine
Authors: John H. Miller IV & Philip A. Poston & H. Thomas Karnes
Location: Department of Pharmaceutics, Virginia Commonwealth
University Medical Center
Goal of Research: To identify the causes of MSUD.
Method Used: Automated device which allows for in-line absorption of blood cells and chromotographic separation of leucine, isoleucine, and hydroxyproline.
Conclusion
Molecular Cause
More information
Location on chromosome:
1- 1p21
6- 6q14
19- 19q13
- The results from this experiment indicate that there is not a significant difference in bleed diameter for the different applied torques.
Onset/Life Expectancy: Without treatment babies would die within 5 months of birth. It's incurable and requires continuous treatment. Any lapse in treatment can cause brain damage. Is only life threatening if left untreated.
Population affected: Affects and 1 in 180,000 infants
- Can be found on different chromosomes:
- 1- Gene DBT(248610) has 70 mutations
- 6- Gene BCKDHB(248611) has 90 mutations
- 19- Gene BCKDHA(608348) has 80 mutations