Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.
Study Type
OBSERVATIONAL
Enrollment
240
Mayo Clinic in Rochester
Rochester, Minnesota, United States
Quantify N-linked glycan intermediates in plasma and urine
Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.
Time frame: length of study, up to 5 years
Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.
Time frame: length of study, up to 5 years
Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.
Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.
Time frame: length of study, up to 5 years
Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.
Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.
Time frame: length of study, up to 5 years
Validate novel diagnostic biomarkers for ALG13-CDG
Measure GlcNAc-β-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.
Time frame: length of study, up to 5 years
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