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Reduced tissue tripeptidyl peptidase 1 activity

MedGen UID:
1052618
•Concept ID:
CN377403
•
Finding
Synonyms: Reduced leukocyte tripeptidyl peptidase 1 activity; Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts
 
HPO: HP:6000571

Definition

Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced tissue tripeptidyl peptidase 1 activity

Conditions with this feature

Neuronal ceroid lipofuscinosis 2
MedGen UID:
406281
•Concept ID:
C1876161
•
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
See: Condition Record
Neuronal ceroid lipofuscinosis 2

Recent clinical studies

Etiology

Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
Chang X, Huang Y, Meng H, Jiang Y, Wu Y, Xiong H, Wang S, Qin J
Brain Dev 2012 Oct;34(9):739-45. Epub 2012 Jan 14 doi: 10.1016/j.braindev.2011.12.005. PMID: 22245569

Diagnosis

Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
Chang X, Huang Y, Meng H, Jiang Y, Wu Y, Xiong H, Wang S, Qin J
Brain Dev 2012 Oct;34(9):739-45. Epub 2012 Jan 14 doi: 10.1016/j.braindev.2011.12.005. PMID: 22245569

Therapy

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
Kohlschütter A, Schulz A
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:682-8. PMID: 27491216
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.
Vuillemenot BR, Katz ML, Coates JR, Kennedy D, Tiger P, Kanazono S, Lobel P, Sohar I, Xu S, Cahayag R, Keve S, Koren E, Bunting S, Tsuruda LS, O'Neill CA
Mol Genet Metab 2011 Nov;104(3):325-37. Epub 2011 Jun 30 doi: 10.1016/j.ymgme.2011.06.018. PMID: 21784683

Prognosis

Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
Chang X, Huang Y, Meng H, Jiang Y, Wu Y, Xiong H, Wang S, Qin J
Brain Dev 2012 Oct;34(9):739-45. Epub 2012 Jan 14 doi: 10.1016/j.braindev.2011.12.005. PMID: 22245569
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.
Bessa C, Teixeira CA, Dias A, Alves M, Rocha S, Lacerda L, Loureiro L, Guimarães A, Ribeiro MG
Mol Genet Metab 2008 Jan;93(1):66-73. Epub 2007 Oct 23 doi: 10.1016/j.ymgme.2007.08.124. PMID: 17959406

Clinical prediction guides

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.
Vuillemenot BR, Katz ML, Coates JR, Kennedy D, Tiger P, Kanazono S, Lobel P, Sohar I, Xu S, Cahayag R, Keve S, Koren E, Bunting S, Tsuruda LS, O'Neill CA
Mol Genet Metab 2011 Nov;104(3):325-37. Epub 2011 Jun 30 doi: 10.1016/j.ymgme.2011.06.018. PMID: 21784683
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.
Bessa C, Teixeira CA, Dias A, Alves M, Rocha S, Lacerda L, Loureiro L, Guimarães A, Ribeiro MG
Mol Genet Metab 2008 Jan;93(1):66-73. Epub 2007 Oct 23 doi: 10.1016/j.ymgme.2007.08.124. PMID: 17959406

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