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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

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Related Experiment Video

Updated: Jun 17, 2026

Application of Biochip Microfluidic Technology to Detect Serum Allergen-specific Immunoglobulin E sIgE
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Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response.

Enrico Scala1, Stefania Madonna2, Daniele Castiglia3

  • 1Clinical and Laboratory Molecular Allergy Unit, IDI-IRCCS, 00167 Rome, Italy.

Biomedicines
|January 21, 2023
PubMed
Summary

Proteomic tests aid in diagnosing rare genetic disorders presenting with atopic dermatitis (AD)-like symptoms and high IgE levels. Multiplex microarray methods identified allergen sensitization profiles in patients with conditions like X-linked ichthyosis and Comel-Netherton syndrome.

Keywords:
Comel–Netherton syndromeHyper–IgEMID1IP1TSPAN7atopic dermatitisfood allergyinborn errornsLipid transfer proteinrecessive X–linked ichthyosis

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Area of Science:

  • Genetics and Immunology
  • Dermatology
  • Allergy Diagnostics

Background:

  • Atopic dermatitis (AD) is a common pediatric inflammatory skin condition.
  • Inborn errors often manifest early with AD-like symptoms and deregulated IgE.
  • Proteomic tests enable precise diagnosis of complex genetic disorders.

Purpose of the Study:

  • To evaluate the utility of multiplex proteomic and genomic techniques in diagnosing rare inborn errors with hyper-IgE (HIE).
  • To characterize the sensitization profiles in patients with specific rare genetic conditions.
  • To report the first association of X-chromosome microduplication with HIE.

Main Methods:

  • Comparative genomic hybridization microarray (Array-CGH) was performed.
  • Specific IgE evaluation utilized allergenic microarray systems (ISAC and ALEX2).
  • Multiplex micro- and macroarray methods were employed for proteomic analysis.

Main Results:

  • Proteomic multiplex methods successfully diagnosed sensitization profiles in four rare diseases: recessive X-linked ichthyosis, Comel-Netherton syndrome, monosomy 1p36 syndrome, and Xp11.4 microduplication.
  • Patients exhibited polyreactivity to environmental and food allergens.
  • The study describes the first association between X-chromosome microduplication and HIE, with IgE levels up to 10,430 kU/L.

Conclusions:

  • Multiplex proteomic diagnostics are highly effective for identifying sensitization patterns in inborn errors with deregulated IgE.
  • These advanced diagnostic tools should be integrated into the management of inborn errors associated with hyper-IgE.
  • Early and precise diagnosis through proteomic analysis can improve patient outcomes.