SNP Shot: Genomic Insights

Glutathione synthetase deficiency is a condition where the body cannot produce enough glutathione, a crucial molecule. Glutathione protects cells from damage by neutralizing harmful molecules produced during energy creation. It also assists in processing drugs and carcinogens, as well as constructing DNA, proteins, and other vital cell parts.

Glutathione synthetase deficiency has three classifications: mild, moderate, and severe. A mild deficiency often causes hemolytic anemia, the destruction of red blood cells. Those affected may also excrete excessive amounts of 5-oxoproline in their urine (5-oxoprolinuria), a substance that accumulates when glutathione isn't correctly processed.

Individuals with a moderate deficiency might show symptoms soon after birth, including hemolytic anemia, 5-oxoprolinuria, and metabolic acidosis, a buildup of acid in the blood and tissues.

The severe form of this deficiency includes the features of the moderate form, plus neurological problems. These can involve seizures, psychomotor retardation (slowed physical reactions, movements, and speech), intellectual disability, and ataxia (loss of coordination). Some individuals with a severe deficiency also experience recurring bacterial infections.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene in each cell must have mutations for the disorder to manifest. The parents of someone with an autosomal recessive condition each carry one mutated copy of the gene, but usually do not exhibit symptoms of the condition themselves.