Hypermethioninemia (MET)

Gene
GNMT
Location
6p12
Disease
Hypermethioninemia (MET)
Description
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood.
Signs and Symptoms
Most Individuals with hypermethioninemia may not show any symptoms. A few individual with hypermethioninemia may develop intellectual disability and other neurological problems including 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.
Type
Amino Acid Disorders
Category
Secondary

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