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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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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Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges.

Ewa Głąb-Jabłońska1, Joanna Taybert2, Anna Wiśniewska2

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Newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry identified 94 cases. Early detection through newborn screening prevents serious metabolic complications.

Keywords:
C8DBSMCAD deficiencyMS/MSatypical acylcarnitine profilenewborn screeningtandem mass spectrometry

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Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Newborn Screening

Background:

  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a genetic disorder affecting fatty acid metabolism.
  • It can cause severe health issues like hypoketotic hypoglycemia and hepatic encephalopathy, even death.
  • Early diagnosis and intervention are crucial to prevent life-threatening metabolic decompensation.

Purpose of the Study:

  • To evaluate the effectiveness of newborn screening for MCAD deficiency.
  • To analyze screening data for identifying MCAD deficiency cases and characteristic biochemical markers.
  • To highlight the importance of early detection and timely therapeutic interventions.

Main Methods:

  • Dried blood spots from 3,806,166 newborns were analyzed using tandem mass spectrometry (MS/MS).
  • Positive screening results were confirmed via GC/MS urine organic acid profiling and enzymatic/molecular testing.
  • Key analytes included octanoylcarnitine (C8), hexanoylcarnitine (C6), decanoylcarnitine (C10), and the C8/C10 ratio.

Main Results:

  • A total of 94 cases of MCAD deficiency were identified between 2014-2024.
  • Consistent acylcarnitine profiles (elevated C6, C8, C10, and altered C8/C10 ratio) were observed in most cases.
  • One atypical MCAD deficiency case with an unusual acylcarnitine profile was detected.

Conclusions:

  • Tandem mass spectrometry is effective for including MCAD deficiency in newborn screening programs.
  • Newborn screening enables early diagnosis and prompt initiation of treatment, preventing severe outcomes.
  • Close monitoring and further testing are recommended even for slight elevations in C8 levels.