# Multiplex Analysis of Inborn Errors of Metabolism

> **NIH NIH R01** · UNIVERSITY OF WASHINGTON · 2021 · $534,001

## Abstract

The overall goal of this project is develop tandem mass spectrometry for newborn
screening of the subset of lysosomal storage diseases for which treatment options exist
or are being developed. A punch from a dried blood spot on a newborn screening card is
used as a source of lysosomal enzymes, and this is incubated with a collection of
substrates in a suitable buffer to allow formation of products. A second punch is used for
extraction with organic solvent to recover biomarkers for lysosomal storage diseases. Both
assays can be combined into a single multiplex tandem mass spectrometry assay for
newborn screening of multiple treatable lysosomal storage diseases. We propose to pilot
this highly multiplexed assay in the Washington State Newborn Screening Laboratory. We
will also carry out exome DNA sequencing on dried blood spots that give an enzyme
activity below the cut-off value. This data will allow us to determine the positive predictive
values and false positive rates for the screening assay. These pilot studies will explore
the feasibility of newborn screening of treatable lysosomal storage diseases. The second
component of the project is to develop tandem mass spectrometry assays to support post-
newborn screening analysis for lysosomal storage diseases. We will use high resolution
assays to measure small changes in enzyme levels in blood-derived leukocytes so that
the severity of the lysosomal storage disease can be estimated.

## Key facts

- **NIH application ID:** 10150820
- **Project number:** 5R01DK067859-21
- **Recipient organization:** UNIVERSITY OF WASHINGTON
- **Principal Investigator:** Michael H Gelb
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $534,001
- **Award type:** 5
- **Project period:** 1999-08-01 → 2022-09-09

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10150820

## Citation

> US National Institutes of Health, RePORTER application 10150820, Multiplex Analysis of Inborn Errors of Metabolism (5R01DK067859-21). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10150820. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*