Beta-mercaptolactate cysteine disulfiduria

Beta-mercaptolactate cysteine disulfiduria is an extremely rare metabolic condition in which the body has trouble breaking down certain sulfur-containing compounds. People with this condition excrete unusually high amounts of a substance called beta-mercaptolactate-cysteine disulfide in their urine. This happens because of a deficiency in an enzyme called mercaptopyruvate sulfurtransferase, which normally helps process sulfur-containing amino acids in the body. The condition was first described in the medical literature in the 1960s and 1970s. In some reported cases, individuals with this biochemical finding have had intellectual disability or other developmental concerns, but it remains unclear whether the enzyme deficiency directly causes these symptoms or whether they are coincidental findings. Some individuals with the same urine abnormality have been reported to be completely healthy, which makes the clinical significance of this condition uncertain. Because so few cases have been described in the medical literature, there is no established treatment specifically for this condition. Management, when needed, focuses on supportive care and addressing any developmental or neurological symptoms that may be present. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.

Bring these to your next appointment

• Q1.Does my child's enzyme deficiency actually explain their symptoms, or could there be another cause?,Should we pursue genetic testing of the MPST gene to confirm the diagnosis?,Are there any dietary changes that might help manage this condition?,How often should we have follow-up metabolic testing?,What developmental support services would you recommend?,Is there a risk that other family members could be affected?,Are there any research studies or registries we should consider joining?

Common questions about Beta-mercaptolactate cysteine disulfiduria

Related conditions

Other rare diseases commonly researched alongside Beta-mercaptolactate cysteine disulfiduria.

• Cystathioninuria→
• Cystinuria→
• Homocystinuria→