Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination...

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Published inMolecular genetics and metabolism reports Vol. 20; p. 100476
Main Authors Charkhand, Behshad, Scantlebury, Morris H., Narita, Aya, Zimran, Ari, Al-Hertani, Walla
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.09.2019
Elsevier
Subjects
Ambroxol
Ataxia
Epilepsy
Gaucher
Glucosylsphingosine
Lyso-Gb1
Lyso-GL1
Short Communication
Gaucher
Lyso-GL1
Epilepsy
Lyso-Gb1
Ataxia
Ambroxol
Glucosylsphingosine
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Summary:Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neurological manifestations. Ambroxol, in combination with ERT has been suggested to have potential as a promising therapy for patients with GD3. The purpose of this study is to assess the effect of Ambroxol on glucosylsphingosine (Lyso-Gb1) levels, and on the neurological morbidity, in two Canadian patients with GD3.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2019.100476