Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography–tandem mass spectrometry in healthy infants from birth to 6months

Barr, Caroline; Clarke, Joe T.R.; Ntwari, Aimé; Drouin, Régen; Auray‐Blais, Christiane

doi:10.1016/j.ymgme.2009.04.009

Cited by 21 publications

(13 citation statements)

References 28 publications

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“…With regards to urinary Gb 3 excretion in Fabry patients, statistically significant correlations were found with sex, types of mutations, and treatment, but no correlation was found with age (6). Moreover, a marked variability in urinary levels of Gb 3 was observed in normal children from birth to 6 mo of age with speculated causes, such as renal tubular immaturity with decreased tubular reabsorption, altered glomerular permeability to glycosphingolipids, or even slightly reduced enzyme activity in the first month of life (10).…”

Section: What Do We Know?mentioning

confidence: 94%

Biomarkers of Fabry Disease Nephropathy

Schiffmann¹,

Waldek²,

Benigni³

et al. 2010

Clinical Journal of the American Society of Nephrology

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It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions. Traditionally, globotriaosylceramide (Gb 3 ) in urine has been used to evaluate the effect of specific therapy, such as enzyme replacement therapy (ERT). Although urinary Gb 3 decreases significantly with ERT, it has not yet been shown to be a valid surrogate marker in treatment trials. We propose a detailed study of the nature and origin of Gb 3 combined with a prospective collaborative trial that combines Gb 3 changes with the effect of ERT on clinical nephrological outcome measures. Existing biomarkers such as general proteinuria/ albuminuria or specific proteins such as N-acetyl-␤-D-glucosaminidase should be evaluated along with novel proteomic or metabolomic studies for biomarker discovery using mass spectrometry or nuclear magnetic resonance. Standard scoring of all pathologic aspects of kidney biopsies may also be a promising way to assess the effect of therapy.

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Section: What Do We Know?mentioning

confidence: 94%

Biomarkers of Fabry Disease Nephropathy

Schiffmann¹,

Waldek²,

Benigni³

et al. 2010

Clinical Journal of the American Society of Nephrology

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“…48 However, regardless of the severity of symptoms, male and female patients typically show an increased excretion of GL3 in urine 49 but this urine marker is not reliable during the first few weeks of life, probably because of physiological renal changes in the kidneys. 50 Another disease biomarker detectable in blood is globotriaosylsphingosine, but its usefulness in the neonatal period and in the context of NBS requires more study. [51][52][53] ERT became available for Fabry disease treatment in the early 2000s, leading to significant improvements unless irreversible damage has already occurred.…”

Section: Newborn Screening For Fabry Diseasementioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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“…As Barr et al 55 found in their biomarker studies of newborn urine, the concentrations of GL3 in infants before 30 days of age are variable, unreliable, and may be high even in normal infants. Therefore, urine GL3 concentration should not be used as a prognostic biomarker before 30 days of age.…”

Section: Monitoring Suggestionsmentioning

confidence: 96%

“…Therefore, urine GL3 concentration should not be used as a prognostic biomarker before 30 days of age. 55 Cases ascertained via newborn screening often benefit from genotype and family studies to clarify predicted disease severity. Although there can be intrafamilial variability of symptoms, much can still be gained by looking at other affected family members.…”

Section: Monitoring Suggestionsmentioning

confidence: 99%