Gamma-glutamyl transpeptidase deficiency

Gamma-glutamyl transpeptidase deficiency (also called GGT deficiency or glutathionuria) is a very rare inherited metabolic disorder. It affects the body's ability to break down a molecule called glutathione, which plays an important role in protecting cells from damage. When the enzyme gamma-glutamyl transpeptidase (GGT) does not work properly, glutathione and related compounds build up in the urine and blood, a condition called glutathionuria. The symptoms of GGT deficiency can vary widely from person to person. Some people have intellectual disability, behavioral problems, or psychiatric symptoms such as mood changes and unusual behavior. Others may have very mild symptoms or none at all, which makes this condition easy to miss. Because so few cases have been reported worldwide, doctors are still learning about the full range of effects this disease can have. There is currently no specific cure for GGT deficiency. Treatment focuses on managing symptoms, particularly any neurological or behavioral issues. People with this condition are usually cared for by a team of specialists including metabolic disease experts and neurologists. Early diagnosis through newborn screening or genetic testing can help families plan appropriate care and support.

Bring these to your next appointment

• Q1.What does my child's specific GGT1 gene change mean for their long-term health?,Are there any clinical trials or research studies we could join?,What specialists should be part of our care team?,How often should we have follow-up testing to monitor the condition?,What educational or behavioral support services do you recommend?,Should other family members be tested for this condition?,Are there any dietary changes or supplements that might help?

Common questions about Gamma-glutamyl transpeptidase deficiency

Related conditions

Other rare diseases commonly researched alongside Gamma-glutamyl transpeptidase deficiency.

• Glutathione synthetase deficiency→