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Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

  • Leyla Tümer , Çiğdem Seher Kasapkara EMAIL logo , Gürsel Biberoğlu, , Fatih Ezgü und Alev Hasanoğlu
Veröffentlicht/Copyright: 29. Juni 2013
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 26 Heft 11-12

Abstract

Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3±16.4 vs. 12.3±8.9 nmol/h/mL, p=0.04). All the patients reported here presented with hepatomegaly. Our report expands the spectrum of disorders that should be included in the differential diagnosis of patients with increased plasma chitotriosidase activity, irrespective of the mechanisms involved.

Keywords: chitotriosidase activity; glycogen storage disease type I
Corresponding author: Çiğdem Seher Kasapkara, MD, Gazi University School of Medicine, Department of Pediatric Metabolism, Besevler, 10th floor, Ankara, Turkey, E-mail:

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Received: 2013-2-17
Accepted: 2013-5-28
Published Online: 2013-06-29
Published in Print: 2013-11-01

©2013 by Walter de Gruyter Berlin Boston

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https://doi.org/10.1515/jpem-2013-0066
Schlagwörter für diesen Artikel
chitotriosidase activity; glycogen storage disease type I

Artikel in diesem Heft

  1. Masthead
  2. Masthead
  3. Review article
  4. Application of imaging modalities for evaluating neuroblastoma
  5. Images in pediatric endocrinology
  6. Lingual thyroid
  7. Original articles
  8. A levothyroxine dose recommendation for the treatment of children and adolescents with autoimmune thyroiditis induced hypothyroidism
  9. Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism
  10. Perinatal complications and higher risks of offspring thyroid dysfunction in early childhood of Graves’ disease mothers with euthyroidism
  11. Clinical characteristics and management of cranial diabetes insipidus in infants
  12. Desmopressin administration in children with central diabetes insipidus: a retrospective review
  13. An electronic surveillance system for monitoring the hospital presentation of nutritional vitamin D deficiency in children in Scotland
  14. Frequency and severity of ketoacidosis at onset of autoimmune type 1 diabetes over the past decade in children referred to a tertiary paediatric care centre: potential impact of a national programme highlighted
  15. Vitamin D status is associated with early markers of cardiovascular disease in prepubertal children
  16. Evaluation of bone mineral density in children with type 1 diabetes mellitus
  17. Observational study of diabetes management in type 1 diabetic school-age children during holiday versus school days
  18. Relationship of body mass index and GAD65 antibody status on β-cell secretion at diabetes onset in African-American children
  19. Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus
  20. Concomitant autoantibodies in newly diagnosed diabetic children with transient celiac serology or proven celiac disease
  21. Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey
  22. Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes
  23. Prevalence of metabolic syndrome among urban Indian adolescents and its relation with insulin resistance (HOMA-IR)
  24. Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system
  25. Evaluation of serum neopterin levels and its relationship with adipokines in pediatric obesity-related nonalcoholic fatty liver disease and healthy adolescents
  26. Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
  27. Patient reports
  28. Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn
  29. Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism
  30. A novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
  31. Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia
  32. Speech and language delay in two children: an unusual presentation of hyperthyroidism
  33. Lissencephaly presenting with congenital hypothyroidism
  34. PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
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  36. A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
  37. A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
  38. Central precocious puberty in a girl with Prader-Willi syndrome
  39. Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia
  40. Short communication
  41. No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children
  42. Letter to the Editor
  43. Reliability and validity of homeostasis model assessment for insulin resistance and β-cell dysfunction in critically ill children with hyperglycemia
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