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The Utility of Genomic Testing for Hyperphenylalaninemia
Elisabetta Anna Tendi1, Maria Guarnaccia1, Giovanna Morello1
1Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Journal of Clinical Medicine
|February 25, 2022
Summary
Hyperphenylalaninemia (HPA) is an amino acid disorder due to enzyme defects. Genomic testing aids in early diagnosis and personalized treatment for better patient outcomes.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Hyperphenylalaninemia (HPA) is a prevalent amino acid metabolism disorder characterized by phenylalanine accumulation.
- Clinical symptoms range from mental retardation, highlighting the need for early diagnosis and intervention.
Purpose of the Study:
- To review the genetic basis of HPA, including associated genes and variants.
- To discuss the role of next-generation sequencing (NGS) in diagnosing and managing HPA.
Main Methods:
- Overview of key enzymes in phenylalanine metabolism.
- Compilation of known genes and variants linked to HPA.
- Discussion of genomic testing utility.
Main Results:
- Identified a wide spectrum of genes and variants contributing to HPA.
- Highlighted the increasing importance of high-throughput molecular technologies like NGS.
Conclusions:
- Genomic testing is crucial for accurate HPA diagnosis and genotype identification.
- Timely diagnosis and tailored treatment based on genetic findings improve patient prognosis.
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