Metabolic Brain Disease

, Volume 33, Issue 4, pp 1223–1227 | Cite as

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

  • Fatma Derya BulutEmail author
  • Deniz Kör
  • Berna Şeker-Yılmaz
  • Özlem Hergüner
  • Serdar Ceylaner
  • Ferda Özkınay
  • Sebile Kılavuz
  • Neslihan Önenli-Mungan
Original Article


Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre. This rate is significantly higher than the rate reported in the literature (<1%). Three of the patients had novel mutations, one of them was a collodion baby and the other one was mistyped as type III due to its atypical presentation at the beginning and he was treated with ERT for 8 months. In this report, we present our type II Gaucher patients with three novel mutations and one perinatal lethal form with generalized ichthyosis which is a very rare disorder. Additionally, we would like to highlight the phenotypic heterogeneity not only between the subtypes, also even in the same type.


Gaucher disease type II GBA gene Ichthyosis Dystonia Collodion baby 



• Details of the contributions of individual authors

Conception and design of the article: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, Ö. Hergüner, S. Kılavuz, N. Önenli-Mungan

Draft of the article: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, Ö. Hergüner, N. Önenli-Mungan

Definition of intellectual content: F.D. Bulut, D. Kör, N. Önenli-Mungan

Literature search: F.D. Bulut, B. Şeker-Yılmaz, S. Kılavuz, N. Önenli-Mungan

Data acquisition: F.D. Bulut, B. Şeker-Yılmaz, S. Ceylaner, F. Özkınay, S. Kılavuz

Data analysis: F.D. Bulut, S. Ceylaner, F. Özkınay, S. Kılavuz

Manuscript preparation: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, S. Ceylaner, F. Özkınay, N. Önenli-Mungan

Manuscript editing: F.D. Bulut, D. Kör, S. Ceylaner, F. Özkınay, N. Önenli-Mungan

Manuscript review: F.D. Bulut, B. Şeker-Yılmaz, Ö. Hergüner, N. Önenli-Mungan

Guarantor: F.D. Bulut

Compliance with ethical standards

Conflicts of interest

There are no conflicts of interest.

Ethical approval

Ethical committee approval is not required for retrospective clinical studies.

Patient consent statements were obtained from all of the patients’ legal guardians, also for usage of patient pictures.

Informed consent

Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pediatrics, Division of Metabolism and NutritionÇukurova University Medical FacultyAdanaTurkey
  2. 2.Ministry of Health, Mersin City HospitalMersinTurkey
  3. 3.Department of Pediatrics, Division of Pediatric NeurologyÇukurova University Medical FacultyAdanaTurkey
  4. 4.İntergen Genetic Diagnosis CenterAnkaraTurkey
  5. 5.Department of GeneticsEge University Medical FacultyİzmirTurkey

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