NCC Knowledge Nugget Series: MPS II ACT Sheet-MPS II Knowledge Nugget

Video Transcription

Video Summary

The video is a part of the ACMG Knowledge Nugget series and focuses on newborn screening for mucopolysaccharidosis type two (MPS two). The speaker explains that newborn screening is the first step in the diagnostic process, and further testing is necessary to confirm the presence of the disease. MPS two, also known as Hunter syndrome, is an X-linked lysosomal disorder caused by pathogenic variants in the IDS gene, resulting in a decrease in the IDate two sulfatase enzyme activity and the accumulation of glycosaminoglycans in the body's lysosomes. The presentation of MPS two can vary, and it is categorized into attenuated and severe types. The video provides guidance for healthcare providers on actions to take upon receiving a positive newborn screening result and emphasizes the importance of genetic counseling, clinical evaluation, and further confirmatory testing. Treatment options mentioned include hematopoietic stem cell transplantation and enzyme replacement therapy. The video concludes by providing resources for further information and support. No credits were given in the transcript.

Keywords

newborn screening

MPS two

Hunter syndrome

lysosomal disorder

genetic counseling