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Chitotriosidase deficiency(CHITD)

MedGen UID:
481532
•Concept ID:
C3279902
•
Disease or Syndrome
Synonym: CHITD
 
Gene (location): CHIT1 (1q32.1)
 
OMIM®: 614122

Professional guidelines

PubMed

Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes.
Rodrigues MD, Muller KB, Pereira VG, Martins AM, D'Almeida V
Blood Cells Mol Dis 2010 Apr 15;44(4):305-6. Epub 2010 Feb 23 doi: 10.1016/j.bcmd.2010.02.002. PMID: 20178893

Recent clinical studies

Etiology

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Mavrikiou G, Petrou P, Georgiou T, Drousiotou A
Clin Biochem 2016 Aug;49(12):885-9. Epub 2016 Apr 26 doi: 10.1016/j.clinbiochem.2016.03.013. PMID: 27129798
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.
Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J
Clin Chim Acta 2016 Jun 1;457:8-11. Epub 2016 Mar 11 doi: 10.1016/j.cca.2016.03.004. PMID: 26975750
The human chitotriosidase gene. Nature of inherited enzyme deficiency.
Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, Mannens MM, Aerts JM
J Biol Chem 1998 Oct 2;273(40):25680-5. doi: 10.1074/jbc.273.40.25680. PMID: 9748235

Diagnosis

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Mavrikiou G, Petrou P, Georgiou T, Drousiotou A
Clin Biochem 2016 Aug;49(12):885-9. Epub 2016 Apr 26 doi: 10.1016/j.clinbiochem.2016.03.013. PMID: 27129798
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.
Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J
Clin Chim Acta 2016 Jun 1;457:8-11. Epub 2016 Mar 11 doi: 10.1016/j.cca.2016.03.004. PMID: 26975750
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
Hrebícek M, Zeman J, Musilová J, Hodanová K, Renkema GH, Vepreková L, Ledvinová J, Hrebícek D, Sokolová J, Aerts JM, Elleder M
Virchows Arch 1996 Nov;429(4-5):305-9. doi: 10.1007/BF00198347. PMID: 8972767

Prognosis

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Mavrikiou G, Petrou P, Georgiou T, Drousiotou A
Clin Biochem 2016 Aug;49(12):885-9. Epub 2016 Apr 26 doi: 10.1016/j.clinbiochem.2016.03.013. PMID: 27129798

Clinical prediction guides

The human chitotriosidase gene. Nature of inherited enzyme deficiency.
Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, Mannens MM, Aerts JM
J Biol Chem 1998 Oct 2;273(40):25680-5. doi: 10.1074/jbc.273.40.25680. PMID: 9748235

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