Newborn Screening for Lysosomal Storage Disorders

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Lysosomal storage disorders (LSDs) encompass approximately 50 rare inherited metabolic conditions.
• These disorders stem from enzyme deficiencies impairing lysosome function, presenting significant variability in onset, severity, and outcomes.

Purpose of the Study:

• To provide an overview of LSDs for healthcare providers.
• To detail seven specific LSDs currently included in newborn screening programs.

Main Methods:

• Review of existing literature on LSDs.
• Compilation of information on enzyme deficiencies, inheritance patterns, incidence, clinical presentation, and treatment options for seven LSDs.

Main Results:

• Laboratory methods are available for newborn screening of seven LSDs.
• Information on enzyme deficiency, inheritance, incidence, clinical course, and treatments is provided for each of the seven LSDs.

Conclusions:

• Newborn screening for LSDs is expanding, necessitating increased provider awareness.
• Understanding the variability and specific characteristics of these seven LSDs is crucial for timely diagnosis and management.