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Lysosomal Hydrolases

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,...

Inborn Errors of Metabolism

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: Feb 19, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Precision newborn screening for lysosomal disorders.

Melissa M Minter Baerg¹, Stephanie D Stoway¹, Jeremy Hart^2,3

¹Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|November 10, 2017

Summary

This summary is machine-generated.

New informatics tools significantly improved newborn screening accuracy for lysosomal disorders, reducing false positives and associated caregiver stress. This enhances early detection of critical conditions like Krabbe disease, Pompe disease, and MPS I.

Keywords:

Krabbe disease Pompe collaborative laboratory integrated report disease mucopolysaccharidosis type I newborn screening

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Last Updated: Feb 19, 2026

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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

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Published on: August 25, 2014

Area of Science:

Biochemistry
Informatics
Genetics

Background:

Newborn screening for lysosomal disorders faces challenges with poor specificity and high costs.
False-positive results cause significant psychosocial harm to caregivers and necessitate expensive follow-up testing.

Purpose of the Study:

To report an informatics solution to minimize false positives and improve specificity in newborn screening for lysosomal disorders.
To reduce psychosocial harm and financial burden associated with inaccurate screening results.

Main Methods:

Implemented multivariate pattern recognition software (Collaborative Laboratory Integrated Reports) integrated with tandem mass spectrometry.
Collected and analyzed 55,161 infant specimens for mucopolysaccharidosis type I (MPS I), Pompe disease, and Krabbe disease.

Main Results:

Achieved a false-positive rate of 0.0018% and a positive predictive value of 80%.
Accurately identified affected infants with Krabbe disease, Pompe disease, and MPS I, distinguishing from heterozygotes.

Conclusions:

Postanalytical interpretive tools are effective in drastically reducing false-positive outcomes in newborn screening.
Preliminary evidence suggests no increased risk of false-negative events, warranting long-term surveillance.