Womens Health

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).

Mayo Clinic’s Biochemical Genetics Laboratory has announced an updated second-tier test to detect Krabbe disease (KD) that uses psychosine (PSY) as a disease marker. The new test method has significantly higher sensitivity to detect this devastating disease in infants and allows identification of KD patients with minimal psychosine elevations.

Hormone therapy is often used to prevent night sweats. But finding the right dose of estrogen can be tricky, with some women needing more estrogen than others to get relief. A new Mayo Clinic study published in Menopause: The Journal of the North American Menopause Society found that genetic differences appear to play a role in the effectiveness of hormonal treatment for menopausal women.

This week’s Research Roundup highlights a randomized controlled trial of postoperative belladonna and opium rectal suppositories in vaginal surgery.

The algorithm can be viewed here.

Chromosome analysis, which was once the preferred genetic test for a wide variety of congenital abnormalities, is now one of the most frequently misordered cytogenetic tests at MML. This "Specialty Testing" webinar will outline the differences in technologies and the appropriate use of each test.

In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.