NeoLSD™ MSMS Kit – A Comprehensive Solution for Lysosomal Storage Disorders (LSDs) Screening

Overview

Lysosomal Storage Disorders (LSDs) are a group of rare genetic diseases that can lead to life-threatening complications if not detected and treated promptly. With an estimated incidence of approximately 1 in every 7,000 newborns, LSDs typically present no clinical symptoms immediately after birth, posing significant challenges for early diagnosis.

The NeoLSD™ MSMS Kit developed by Revvity offers a comprehensive solution for LSD screening, enabling the simultaneous detection of six common LSDs using a single dried blood spot (DBS) sample. This streamlined workflow provides rapid, accurate, and highly efficient screening outcomes.

What Are Lysosomal Storage Disorders?

Lysosomal Storage Disorders are inherited metabolic conditions caused by a deficiency of lysosomal enzymes responsible for degrading complex biomolecules. The absence of these enzymes results in the accumulation of unmetabolized substrates within cells, leading to progressive and severe damage to vital organs such as the liver, spleen, heart, central nervous system, and others.

What is LSD Screening?

LSD screening involves the early identification of lysosomal enzyme deficiencies in newborns before the onset of clinical symptoms. Early screening enables timely medical intervention, improving therapeutic outcomes and long-term quality of life. Thanks to advancements in enzyme replacement therapies and hematopoietic stem cell transplantation, many countries have now incorporated LSD screening into their expanded newborn screening programs.

What is the NeoLSD™ MSMS Kit?

The NeoLSD™ MSMS Kit is a specialized newborn screening solution that allows the simultaneous detection of six life-threatening LSDs from a single dried blood spot using advanced tandem mass spectrometry (MS/MS) technology. The kit delivers rapid, accurate, and cost-effective screening results, making it ideal for modern clinical laboratories.

LSDs Screened by NeoLSD™

Detailed Disease and Marker Analysis

Gaucher Disease

Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase (ABG), leading to the accumulation of glucosylceramide in the liver, spleen, and bone marrow. Affected infants typically present with hepatosplenomegaly, anemia, bone pain, and increased fracture risk. Early detection facilitates timely intervention with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), significantly improving clinical outcomes.

Marker: ABG

Summary: Lipid accumulation in the liver, spleen, and bone marrow. Symptoms include hepatosplenomegaly, anemia, and bone pain.

Treatment: Enzyme Replacement Therapy (ERT) or Substrate Reduction Therapy (SRT).

Niemann-Pick A/B Disease

Niemann-Pick A/B disease results from a deficiency of acid sphingomyelinase (ASM), causing the accumulation of sphingomyelin in the liver, spleen, and central nervous system. Clinical features include hepatosplenomegaly, developmental delays, and neurological deterioration. ERT (olipudase alfa) combined with supportive care can enhance quality of life and slow disease progression.

Marker: ASM

Summary: Sphingomyelin accumulation affecting liver, spleen, and nervous system, leading to developmental delays and organ dysfunction.

Treatment: ERT (olipudase alfa) and supportive care.

Pompe Disease

Pompe disease is characterized by glycogen accumulation in cardiac and skeletal muscles due to a deficiency of acid α-glucosidase (GAA). Infants with Pompe disease face a high risk of early mortality if not diagnosed promptly. Early intervention with enzyme replacement therapy (ERT) has proven to be lifesaving, significantly improving cardiac and muscular function.

Marker: GAA

Summary: Glycogen accumulation in cardiac and skeletal muscles, high mortality risk in infants if not treated early.

Treatment: ERT (alglucosidase alfa).

Krabbe Disease

Krabbe disease is a progressive demyelinating disorder of the central nervous system caused by a deficiency of β-galactocerebrosidase (GALC). Affected infants exhibit spasticity, severe motor dysfunction, seizures, and eventually blindness. Early diagnosis enables timely hematopoietic stem cell transplantation, which can substantially improve prognosis when performed before the onset of symptoms.

Marker: GALC

Summary: Demyelination of the central nervous system causing spasticity, loss of mobility, blindness, and seizures.

Treatment: Hematopoietic stem cell transplantation.

Fabry Disease

Fabry disease results from a deficiency of α-galactosidase A (GLA), leading to the accumulation of globotriaosylceramide (Gb3) in vascular endothelial cells. This condition impacts renal, cardiac, and neurological systems, with symptoms including acute pain crises, renal impairment, and increased cardiovascular risk. ERT or pharmacological chaperone therapy with migalastat currently represents the optimal treatment options.

Marker: GLA

Summary: Gb3 accumulation damaging kidneys, heart, and nervous system.

Treatment: ERT or migalastat (if applicable).

MPS I (Hurler Syndrome)

MPS I, also known as Hurler syndrome, is caused by a deficiency of α-L-iduronidase (IDUA), resulting in the accumulation of glycosaminoglycans (GAGs) in multiple organ systems. Clinical manifestations include intellectual disability, skeletal deformities, and multi-organ dysfunction. Early treatment with ERT or hematopoietic stem cell transplantation can lead to significant improvements in clinical outcomes.

Marker: IDUA

Summary: Glycosaminoglycan accumulation causing intellectual disability, skeletal deformities, and multi-organ involvement.

Treatment: ERT or stem cell transplantation.

Key Advantages of NeoLSD™ MSMS Kit

The NeoLSD™ MSMS Kit is specifically designed to optimize newborn screening programs by enabling the simultaneous detection of multiple lysosomal storage disorders (LSDs) from a single dried blood spot sample. This capability significantly enhances laboratory efficiency and supports the early identification of potentially life-threatening conditions. Leveraging advanced tandem mass spectrometry (MS/MS) technology, the NeoLSD™ MSMS Kit delivers highly accurate analytical performance, which is essential for clinical decision-making. Its precision also contributes to a notable reduction in false-positive rates, thereby increasing diagnostic specificity and providing greater confidence in screening results. The kit is ideally suited for high-throughput newborn screening laboratories, capable of processing large sample volumes with consistent accuracy and reliability. Additionally, the NeoLSD™ MSMS Kit seamlessly integrates with the QSight® 225MD system, facilitating fully automated workflows and minimizing manual intervention. Importantly, this solution is fully compliant with international newborn screening standards and best practices, making it a trusted choice for modern screening programs committed to delivering rapid, reliable, and high-quality outcomes.

Keyword: Simultaneous screening of multiple LSDs from a single DBS; high-accuracy tandem mass spectrometry (MS/MS) technology; reduced false-positive rates, suitable for large-scale newborn screening programs, seamless integration with QSight® 225MD system, fully compliant with international screening standards.

NeoLSD™ Testing Workflow

1. Heel-prick blood collection on filter paper.

2. Sample preparation: DBS punching and reagent addition.

3. Enzyme incubation for 18 ± 2 hours at 37°C.

4. Extraction of enzyme reaction products.

5. MS/MS analysis for enzyme activity quantification.

6. Results available within 48 hours.

Conclusion

The NeoLSD™ MSMS Kit is a modern, comprehensive, and highly accurate solution for newborn screening of lysosomal storage disorders. It meets the stringent clinical and operational requirements of advanced neonatal screening programs. Early detection of LSDs using this kit not only enhances the screening capacity of medical centers and large laboratories but also enables timely clinical interventions that can significantly improve long-term outcomes and the quality of life for affected infants.

With its superior analytical precision, streamlined operation, seamless automation integration, and strict adherence to international standards, the NeoLSD™ MSMS Kit is an essential tool for expanding newborn screening programs in Vietnam. SISC is committed to providing continuous support and collaboration with healthcare institutions to improve screening efficiency and contribute to the advancement of public health nationwide.