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Hypermethioninemia
5
Hypermethioninemia
Hour 4
by: John Dewey
Hypermethioninemia (MET):
-genetic disorder developed when you are born
-inherited in an autosomal (not on a sex chromosome) recessive pattern
-prevents the amino acid methionine (used to build proteins) from being broken down in the body, causing a build up of the amino acid
Symptoms
-sluggishness, intellectual disability, and delays in standing or walking
-people with this genetic disorder do not usually have any symptoms
-the exact number of people with MET is not certain
-only a small number of cases have been reported
Treatments/Lifestyle
Genes & Proteins: AHCY and GNMT
chromosome 20
q section
chromosome 6
p section
AHCY
GNMT
-people with hypermethioninemia have to avoid foods that contain methionine: nuts, roast beef, cheese, turkey, and tuna
-researching safe foods for you to eat and making a list for when buying food can help you on this diet
-as long as this diet is carried out throughout life, it is expected to have a normal, healthy development and life
Proteins
- Both proteins are part of the process that breaks down the amino acid methionine
-shortage of the genes (causing a shortage of the proteins)
-results in methionine being built up in the body, and because it is not being broken down, this causes the symptoms
Tests available:
-Molecular
-Biochemical
-Prenatal
-Carrier
The molecular structure of the amino acid, Methionine