New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review
| Author | Daiji Takajo | en |
| Author | Hiroshi Matsumoto | en |
| Author | Takahiro Noguchi | en |
| Author | Naoto Nishimura | en |
| Author | Shigeaki Nonoyama | en |
| Orcid | Daiji Takajo [0000-0002-8441-2234] | en |
| Issued Date | 2020-02-26 | en |
| Abstract | Introduction: Types 2 and 3 Gaucher disease (GD) are neuronopathic forms that are mainly distinguished by the rate of neurological degeneration. All symptomatic children with type 1 or 3 GD should receive enzyme replacement therapy (ERT), whereas the treatment of children with type 2 GD is usually supportive. Case Presentation: We present the case of a 3-month-old Japanese girl diagnosed with neuronopathic GD. She initially presented with failure to thrive and inspiratory stridor. Treatment using ERT was initiated at 5 months of age. Genetic analysis of glucosylceramidase beta (GBA) revealed a compound heterozygous mutation including RecNciI and the novel missense mutation c.1052G > T (p.W351L). Although several clinical improvements were observed, she showed rapid neurological deterioration at 8 months of age. Conclusions: The patient with the compound heterozygous mutation including RecNciI and c.1052G > T (p.W351L) in GBA presented with clinical symptoms consistent with those of type 2 GD. ERT was initiated at 5 months of age; however, it failed to prevent refractory seizures and neurological deterioration. | en |
| DOI | https://doi.org/10.5812/ijp.98996 | en |
| Keyword | Gaucher Disease | en |
| Keyword | Neuronopathic Storage | en |
| Keyword | Enzyme Replacement Therapy | en |
| Keyword | Glucosylceramidase Beta (GBA) | en |
| Publisher | Brieflands | en |
| Title | New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review | en |
| Type | Case Report | en |