Posted 1/22/2020, Updated 4/15/2020
Lysosomal storage diseases (LSDs) are inherited disorders characterized by lack of specific enzymes to break down sugars and fats. The buildup of excess fats and sugars affects different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. While there are currently no cures for LSDs, there are treatments available for some of the disorders that can greatly improve the quality of life for the patient.
Newborn screening for lysosomal storage disorders enables early diagnosis and can lead to earlier initiation of treatment. Twenty-one U.S. states and a few other countries have started newborn screening for LSDs – primarily for mucopolysaccharidosis type I (MPS I) and Pompe disease.
Want to learn more? Check out our list below with associated resources:
1. Newborn screening for LSDs is performed using an enzyme assay
Two FDA-cleared, CE-marked methods are available: digital microfluidics and mass spectrometry.
2. Second tier testing reduces false positive referrals
While first tier newborn screening tests are designed to maximize sensitivity such that all potential cases are identified, the addition of second tier testing measures more specific disease markers to reduce the burden to follow-up programs and prevent unnecessary anxiety and costs for families.
- Publication: “Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges”
- Publication: “Newborn Screening: Taiwanese Experience” (see page 2, “The evolution of NBS methods”)
- Second Tier Sequencing for Public Health Labs
3. When it comes to some LSDs, days matter
Earlier detection through newborn screening can lead to earlier treatment and can dramatically impact the outcome for a baby – especially patients with infantile-onset Pompe disease.
4. Pompe disease is a spectrum
While classic infantile-onset Pompe disease presents with cardiomegaly at birth, late-onset Pompe disease (LOPD) patients may present symptoms at any age – not just adulthood. Patients with early childhood onset of symptoms illustrate that LOPD can and does present as early as the first year of life.
5. Newborn screening for lysosomal storage disorders is saving lives and improving quality of life.
At Baebies, we are partnering with newborn screening programs across the U.S. and around the world to expand screening for LSDs. Baebies SEEKER is a newborn screening platform powered by digital microfluidics with results in less than 3 hours. SEEKER’s first tier enzymatic assay results can be paired with second tier genetic sequencing to reduce false positives.