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Related Concept Videos

Inborn Errors of Metabolism01:20

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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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Blood Studies for Cardiovascular System III: Serum Lipid Profile01:25

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Assessing Whole-Body Lipid-Handling Capacity in Mice
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Newborn screening for lipid disorders.

Xiangqiang Shao1, Robert Steiner1, Amy L Peterson2

  • 1Department of Pediatrics, Division of Genetics and Metabolism.

Current Opinion in Lipidology
|February 26, 2024
PubMed
Summary
This summary is machine-generated.

Newborn screening can now detect lipid disorders like familial hypercholesterolemia. Advances in testing methods, including next-generation sequencing, enable early identification of these conditions for improved public health outcomes.

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Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Newborn screening is a highly successful public health initiative.
  • Recent interest has grown in expanding newborn screening to include lipid disorders.
  • Early detection of lipid disorders has significant implications for affected newborns and their families.

Purpose of the Study:

  • To review recent advancements in newborn screening for lipid disorders.
  • To highlight the feasibility and potential public health impact of screening for conditions like familial hypercholesterolemia and cerebrotendinous xanthomatosis.

Main Methods:

  • Review of recent studies on biomarker measurement from newborn screening dried blood spots.
  • Evaluation of current assays for specific lipid disorders.
  • Assessment of next-generation sequencing technologies for primary newborn screening.

Main Results:

  • Biomarkers for heterozygous familial hypercholesterolemia can be measured from dried blood spots.
  • Cerebrotendinous xanthomatosis screening is feasible with existing assays.
  • Next-generation sequencing shows promise for identifying a broad range of common and rare lipid disorders.

Conclusions:

  • Newborn screening for lipid disorders is becoming increasingly feasible.
  • Technological advancements are expanding the scope of detectable lipid disorders.
  • Expanded newborn screening for lipid disorders has the potential to improve individual and public health.