Inherited Metabolic Diseases in Pediatrics: Clinical and Molecular Features
A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Pediatrics".
Deadline for manuscript submissions: closed (20 June 2022) | Viewed by 5007
Special Issue Editor
Special Issue Information
Dear Colleagues,
Inherited metabolic diseases or inborn errors of metabolism are a large group of genetic disorders disrupting biochemical processes. A concept of inborn errors of metabolism as a condition caused by the deficiency of specific enzyme activity was first described a century ago by Sir Archibald Garrod. The advancement in technologies including tandem mass spectrometry (MS/MS) and next-generation sequencing (NGS) have profoundly expanded our knowledge about inherited metabolic diseases. The pathophysiology is not only limited to intoxication effect-enzyme deficiency disorders, but also other enzymatic and non-enzymatic related mechanisms such as defects in small molecule biosynthesis, organelle biogenesis, amino acid transporter, and mitochondrial gene expression.
As of currently, approximately 1,000 – 1,400 inherited metabolic diseases have been identified with cumulative incidence of 1:1,000 newborns. The initial presentation can occur at any time, ranging from prenatal to adult-onset and approximately 25% of patients manifested the symptoms during the neonatal or infant period.
Since the clinical phenotypes are broad, non-specific, and often mimicking more common conditions, the diagnosis can be challenging. Although the routine laboratory and biochemical genetic tests can narrow down the differential diagnosis or diagnose multiple inherited metabolic diseases, some inherited metabolic diseases do not have specific biomarkers, or the diagnostic tests are performed in research laboratory only. The advances in NGS technology and bioinformatics have improved the diagnostic yield and the turnaround time as well as reduced the cost of molecular genetic tests. Those factors lead to the broadly used of single gene test, multiple gene panels and whole exome sequencing (WES) in genetic practice both when biochemical genetic tests can confirm or fail to diagnose inherited metabolic diseases. NGS technology also has a role in prenatal diagnosis, determination of carrier, expanding genotype-phenotype correlations, identifying the underlying molecular basis of diseases, and determining the possible treatment options. In addition, NGS technology has been applied to population newborn screening as a second-tier screening for positive MS/MS results for some inherited metabolic diseases. The knowledge of phenotype of several inherited metabolic conditions has been broadened and the expansion of screening program has shown that some biochemical abnormalities are just normal variants and do not cause the actual diseases.
Whole-genome sequencing (WGS) can address many limitations of WES such as limitations to detect structural/complex variants or identify the variants located in noncoding regions, therefore it becomes another diagnostic tool if WES cannot confirm diagnosis or will replace WES in the future. The emerging technology in the horizon is long-read sequencing (LRS) which can overcome NGS limitations. The expansion of molecular genetics technologies will certainly improve the overall care to patients with inherited metabolic diseases.
The purpose of this Special Issue is to address the expanded clinical spectrums of inherited metabolic diseases after molecular diagnosis has been applied as a standard of care in clinical practice, genotype-phenotype correlations, the remaining gaps and challenges in the diagnostic and management, and the role of the emerging molecular technology in clinical practice.
Dr. Pranoot Tanpaiboon
Guest Editor
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Keywords
- inherited metabolic diseases
- inborn errors of metabolism
- clinical features
- phenotype
- molecular diagnosis
- NGS
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