Expanded Metabolic Screening

Caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in various organs, such as the liver, spleen, and bones.

Results from a deficiency in the enzyme alpha-galactosidase A, causing a buildup of a fatty substance called globotriaosylceramide in blood vessels, kidneys, heart, and nerves.

Caused by a deficiency in the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen in muscles and organs, particularly the heart and skeletal muscles.

Resulting from defects in the enzymes acid sphingomyelinase (Type A and B) or NPC1/NPC2 proteins (Type C), causing the buildup of sphingomyelin and/or cholesterol in cells.

A group of disorders caused by deficiencies in enzymes that break down complex carbohydrates called glycosaminoglycans, leading to their accumulation in various tissues and organs.

Some LSDs, like Pompe disease and Fabry disease, are included in newborn screening programs in certain regions. These screening tests typically analyze dried blood spot samples from newborns to detect enzyme deficiencies or specific biomarkers associated with LSDs.

If there is a known family history of LSDs, at-risk individuals can undergo genetic counseling and testing to determine their carrier status or to diagnose affected individuals. Prenatal testing or pre-implantation genetic diagnosis (PGD) may also be considered for couples with a known risk of having a child with an LSD.

Healthcare providers should consider the possibility of an LSD in patients presenting with unexplained symptoms consistent with these disorders, such as organomegaly, developmental delays, neurological deficits, or bone abnormalities. A high index of suspicion and early referral to a specialist can facilitate prompt diagnosis.

Blood, tissue, or cultured cell samples can be tested to measure the activity of specific lysosomal enzymes. Reduced enzyme activity can indicate the presence of an LSD, although further confirmatory testing is usually required.

Genetic testing can be performed to identify the specific gene mutations responsible for an LSD. This is particularly useful for confirming a diagnosis, determining the severity of the disease, and providing information for family planning and genetic counseling.

Radiologic imaging, such as X-rays, MRI, or CT scans, can help identify characteristic abnormalities associated with certain LSDs, such as bone deformities or organ enlargement. These findings can support the clinical suspicion of an LSD and guide further diagnostic testing.

Tissue biopsies from affected organs can be analyzed under a microscope to identify the presence of storage material, which is characteristic of LSDs. Electron microscopy can provide further details about the nature of the accumulated substances, helping to narrow down the diagnosis.

Some LSDs have specific biomarkers that can be measured in blood, urine, or other biological samples. The presence or elevated levels of these biomarkers can suggest an LSD and guide further diagnostic testing.

Early diagnosis allows for the prompt initiation of appropriate treatments, such as enzyme replacement therapy, substrate reduction therapy, hematopoietic stem cell transplantation, or gene therapy. Starting treatment early can help slow disease progression, alleviate symptoms, and improve overall prognosis.

Early intervention can help better manage symptoms and prevent or minimize complications associated with LSDs, such as organ damage, neurological impairment, and skeletal deformities. This can lead to a better quality of life for affected individuals.

By minimizing the impact of the disease and associated complications, early diagnosis and intervention can help promote better overall growth and development in children with LSDs, leading to improved physical, cognitive, and emotional outcomes.

Early diagnosis of an LSD in a family member can provide valuable information for family planning, allowing for informed decisions regarding future pregnancies. Genetic counseling can help families understand the inheritance pattern, discuss reproductive options, and provide guidance on prenatal testing or pre-implantation genetic diagnosis.

Early diagnosis can help families access essential psychosocial support services to cope with the challenges associated with having a child with an LSD. This includes connecting with support groups, mental health professionals, and educational resources to better understand and manage the condition.

Early diagnosis enables healthcare providers to develop a personalized care plan and closely monitor the affected individual’s health, adjusting treatment and management strategies as needed to optimize outcomes and minimize complications.

Identifying individuals with LSDs early can help researchers study the natural history of these diseases, evaluate the effectiveness of various treatment options, and develop new therapeutic approaches. This can ultimately contribute to improving the care and outcomes for individuals with lysosomal storage diseases.

SCID comprises a group of diseases (caused by at least 13 genetic defects) in which the immune system is severely compromised, to the point that the body is unable to defend itself against infectious agents. They generally manifest from the first months of life,  with recurrent infections characterized by a particularly aggressive course.

Lysosomal storage diseases are caused by an alteration of any of the functions of lysosomes (organelles responsible for the degradation and the recycling of cell metabolism products). In particular, they are associated with the deficiency or the malfunctioning of the enzymes responsible for their activity.