Maple syrup urine disease 2011

Summary

The maple syrup urine (MSUD) disease is an autosomal recessive disorder which is caused by a disturbance in the amino acid metabolism. The symptomes of MSUD are 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. The most characteristical symptome is the sweet smell of the urine, just like maple syrup.

Phenotype

The MSUD occurs because of a defect in the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). This defect leads to a block in oxidative decarboxylation which results in a rising concentration of branched-chain amino acids and their toxic by-products in blood and urine. The MSUD can be divided in 5 subtypes: - Classic Severe MSUD - Intermediate MSUD - Intermittent MSUD - Thiamine-responsive MSUD - E3-Deficient MSUD with Lactic Acidosis

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.

Neutral mutations

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.