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Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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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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Delivery Pathways to the Lysosome

Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...

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Published on: June 25, 2010

Newborn screening for lysosomal storage disorders.

Dietrich Matern1

  • 1Biochemical Genetics Laboratory, Departments of Laboratory Medicine and Pathology, Pediatric and Adolescent Medicine, and Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA. matern@mayo.edu

Acta Paediatrica (Oslo, Norway : 1992)
|May 28, 2008
PubMed
Summary
This summary is machine-generated.

Newborn screening can now identify lysosomal storage disorders (LSDs) using advanced tests. Further studies are needed to confirm the best methods for widespread newborn screening programs.

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Area of Science:

  • Biomedical science
  • Public health
  • Genetics

Background:

  • Newborn screening identifies treatable conditions in infants to prevent mortality, morbidity, and disabilities.
  • Lysosomal storage disorders (LSDs) are increasingly treatable, making their inclusion in newborn screening programs a consideration.

Purpose of the Study:

  • To evaluate the feasibility and effectiveness of newborn screening for lysosomal storage disorders (LSDs).
  • To assess new high-throughput diagnostic technologies for population-based screening of LSDs.

Main Methods:

  • Review of emerging diagnostic technologies for LSDs, including tandem mass spectrometry and microbead array technology.
  • Discussion of the requirements for successful population screening: high sensitivity and low false-positive rates.

Main Results:

  • Two promising methods (tandem mass spectrometry and microbead array technology) can assess multiple LSDs from a single newborn blood spot.
  • These methods offer potential for high-throughput screening of LSDs.

Conclusions:

  • Newborn screening for LSDs is becoming feasible with advanced diagnostic assays.
  • Prospective studies are essential to optimize screening protocols and ensure effective implementation before large-scale adoption.