Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation

Yin Hsiu Chien, Olaf A. Bodamer, Shu Chuan Chiang, Hermann Mascher, Christina Hung, Wuh Liang Hwu

Research output: Contribution to journalArticle

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Abstract

Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later-onset phenotype, IVS4+919G>A mutation, and their family members. The lyso-Gb3 levels were below the detection limit in normal control newborns and were slightly higher in adults. In males of all ages with the IVS4+919G>A mutation, lyso-Gb3 levels were elevated and were higher than in age-matched controls. The elevation of lyso-Gb3 levels in males with the IVS4+919G>A mutation was only slightly elevated compared with patients with the classical Fabry phenotype. The measurement of lyso-Gb3 levels is useful in the diagnosis of Fabry disease, including the later-onset phenotype. The DBS lyso-Gb3 level was not elevated in IVS4+919G>A heterozygotes, and is not useful for their diagnosis. Since lyso-Gb3 levels are elevated from birth in Fabry disease males, "an elevated lyso-Gb3 level" may be of little values for deciding when to begin enzyme replacement therapy.

Original languageEnglish
Pages (from-to)881-885
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume36
Issue number5
DOIs
StatePublished - Sep 1 2013

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Fabry Disease
Newborn Infant
Mutation
Phenotype
globotriaosyl lysosphingolipid
Enzyme Replacement Therapy
Heterozygote
Limit of Detection
Biomarkers

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. / Chien, Yin Hsiu; Bodamer, Olaf A.; Chiang, Shu Chuan; Mascher, Hermann; Hung, Christina; Hwu, Wuh Liang.

In: Journal of Inherited Metabolic Disease, Vol. 36, No. 5, 01.09.2013, p. 881-885.

Research output: Contribution to journalArticle

Chien, Yin Hsiu ; Bodamer, Olaf A. ; Chiang, Shu Chuan ; Mascher, Hermann ; Hung, Christina ; Hwu, Wuh Liang. / Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. In: Journal of Inherited Metabolic Disease. 2013 ; Vol. 36, No. 5. pp. 881-885.
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