Laboratory diagnostic approaches in metabolic disorders

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Inborn errors of metabolism (IEM) present diverse diagnostic challenges.
• Newborn screening (NBS) has improved early detection of many IEM using laboratory biomarkers.
• Early diagnosis of IEM is crucial for preventing severe clinical symptoms, reducing morbidity and mortality.

Purpose of the Study:

• To provide an overview and guidelines for diagnosing IEM.
• To address diagnosis in patients with and without acute metabolic decompensation.
• To guide the use of routine laboratory results for efficient specialized testing.

Main Methods:

• Review of diagnostic approaches for IEM.
• Discussion of laboratory biomarker utilization in NBS.
• Guidance on interpreting routine laboratory results for IEM diagnosis.

Main Results:

• NBS facilitates diagnosis for many IEM.
• Molecular, biochemical, and clinical variability can limit NBS detection.
• Routine laboratory tests can guide specialized testing for IEM.

Conclusions:

• Diagnostic strategies for IEM must account for screening limitations.
• Integrated use of screening and clinical assessment is vital for timely IEM diagnosis.
• Efficient laboratory test ordering is key to prompt IEM diagnosis and treatment.