46 Glutathione synthetase deficiency is type of organic acidemia that affects the production glutathione. glutathione helps prevent cell damage, build dna and proteins, and process medications and cancer-causing compounds. people can have mild, moderate, or severe disease. mild disease may cause hemolytic anemia and 5-oxoprolinuria (excess excretion of 5-oxoproline in urine). moderate disease may cause anemia, 5-oxoprolinuria, and metabolic acidosis in early infancy. severe disease may cause anemia, 5-oxoprolinuria, metabolic acidosis, neurological symptoms (e.g., seizures, learning disability, loss of coordination), and recurrent infections. it is caused by mutations in the gss gene and is inherited in an autosomal recessive fashion
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.