Maple syrup urine disease 2011
Contents
Summary
The maple syrup urine disease is an autosomal recessive metabolic disorder. The disease is caused by an disturbance in the amino acid metabolism which leads to a high concentration of branched-chain amino acids and their toxic by-products in blood and urine. The most characteristical symptome is the sweet smell of the urine, just like maple syrup.
Phenotype
The MSUD leads to several different symptomes like mental and physical retardation, feeding problems, vomiting, dehydration, lethargy, hypotonia, seizures, hypoglycaemia, ketoacidosis, opisthotonus, pancreatitis, coma and neurological decline. If the disease remains unrecognized it can also lead to brain damage and in the last resort to death.
Cross-references
See also description of this disease in
- specific link to Wikipedia
- specific link to HGMD
- specific link to OMIM
... (see databases in "resources")
Biochemical disease mechanism
The example protein is involved in the example pathway...
Ideally, include a graphical pathway representation.
(see above: own words, no plagiarism)
Cross-references
- link to KEGG
- link to MetaCyc
... see databases in "resources"
Mutations
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations.
Reference sequence
Which sequence does not cause the disease and is most often found in the population.
- Create a page for the reference sequence. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
