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Hypermethioninemia
2
Transcript
Treatments
Symptoms
- Trial of oral vitamin B6 supplement
- Daily measurement of plasma amino acids
- low protein diet
AHCY
Enzymes affected
MAT1A
Most people do not show symptoms if they have hypermethioninemia, but if they do this is what you will see.
- delay in motor skills (standing or walking)
- sluggishness
- muscle weakness
- liver problems
- unusual facial features
- breath, sweat, or urine can smell like boiled cabbage
- MAT1A gene
- GNMT gene
- AHCY gene
GNMT
Amino acid affected
Methionine
Prognosis
Causes
Hypermethioninemia can occur a many of ways. Here's a list on the ways in can occur.
- homocystinuria
- tyrosinemia
- galactosemia
- liver disease
- excessive dietary intake from consuming a large amounts of proteins
- methionine rich infant formula.
- Primary cases of this are very rare and most cases aren't discovered since most people don't show any signs.
People with this
this disorder live a
pretty normal life
and live to a normal age.
Description
Formula high in methionine
Hypermethioninemia is an excess
amount of a the protein methionine
in the blood. This condition occurs when
methionine is not completely broken
down in the body. It is an autoimmune
disorder and is passed down from the
parents through the recessive gene.
Hypermethioninemia
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