Hypermethioninemia (MET)



Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood.


Signs and Symptoms
People with hypermethioninemia often do not show any symptoms. Some individuals with Hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. This disorder may also be caused by mutations in the GNMT and MAT1A genes.

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