Inborn errors of metabolism for the diagnostic radiologist

Area of Science:

• Biomedical Imaging
• Medical Genetics
• Pediatric Radiology

Background:

• Inherited metabolic disorders (IMDs) are increasingly recognized due to advances in diagnostics and therapeutics.
• Radiologists are crucial for diagnosing IMDs and monitoring treatment efficacy.
• A comprehensive understanding of IMDs is essential for general radiologists.

Purpose of the Study:

• To provide general radiologists with essential background knowledge on inherited metabolic disorders.
• To outline key radiological features and investigations for diagnosing IMDs.
• To cover various presentations and specific groups of IMDs.

Main Methods:

• Review of radiological presentations of inherited metabolic disorders.
• Categorization of disorders by presentation (e.g., intoxication, hypoglycemia, developmental delay, storage features).
• Discussion of specific IMD groups including intermediary metabolism, fatty acid oxidation, mitochondrial, lysosomal storage, peroxisomal, glycosylation, and creatine synthesis disorders.

Main Results:

• Detailed exploration of classic radiological features for various IMDs.
• Identification of characteristic imaging findings for different presentations and disease groups.
• Emphasis on the radiologist's role in diagnosis and therapeutic monitoring.

Conclusions:

• Radiologists are integral to the multidisciplinary approach for diagnosing and managing IMDs.
• Familiarity with specific radiological patterns aids in early and accurate diagnosis.
• Ongoing advances necessitate continuous learning in the radiological assessment of IMDs.