scholarly journals Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

2014 ◽  
Vol 1 ◽  
pp. 249-253 ◽  
Author(s):  
Akira Suzuki ◽  
Hironori Nagasaka ◽  
Yasuhiro Ochi ◽  
Kazuhiro Kobayashi ◽  
Hiroshi Nakamura ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Adipose Triglyceride Lipase ◽  
Lipid Storage Disease ◽  
Triglyceride Lipase ◽  
Peripheral Leukocyte ◽  
Hematology Analyzer ◽  
Neutral Lipid Storage Disease ◽  
Automated Hematology Analyzer

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

2007 ◽  
Vol 36 (6) ◽  
pp. 856-859 ◽  
Author(s):  
Masashi Akiyama ◽  
Kaori Sakai ◽  
Masaya Ogawa ◽  
James R. McMillan ◽  
Daisuke Sawamura ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Adipose Triglyceride Lipase ◽  
Lipid Storage Disease ◽  
Triglyceride Lipase ◽  
Neutral Lipid Storage Disease

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

2006 ◽  
Vol 39 (1) ◽  
pp. 28-30 ◽  
Author(s):  
Judith Fischer ◽  
Caroline Lefèvre ◽  
Eva Morava ◽  
Jean-Marie Mussini ◽  
Pascal Laforêt ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Adipose Triglyceride Lipase ◽  
Gene Encoding ◽  
Lipid Storage Disease ◽  
Triglyceride Lipase ◽  
Neutral Lipid Storage Disease

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

2008 ◽  
Vol 377 (3) ◽  
pp. 843-846 ◽  
Author(s):  
Filomena Campagna ◽  
Luisa Nanni ◽  
Fabiana Quagliarini ◽  
Elena Pennisi ◽  
Constantine Michailidis ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Adipose Triglyceride Lipase ◽  
Novel Mutations ◽  
Lipase Gene ◽  
Lipid Storage Disease ◽  
Triglyceride Lipase ◽  
Neutral Lipid Storage Disease

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2orCGI-58/ABHD5

2009 ◽  
Vol 297 (2) ◽  
pp. E289-E296 ◽  
Author(s):  
Martina Schweiger ◽  
Achim Lass ◽  
Robert Zimmermann ◽  
Thomas O. Eichmann ◽  
Rudolf Zechner
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Neutral Lipids ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Lipid Storage ◽  
Adipose Triglyceride Lipase ◽  
Lipid Storage Disease ◽  
Triglyceride Lipase ◽  
Neutral Lipid Storage Disease

Neutral lipid storage disease (NLSD) is a group of autosomal recessive disorders characterized by the excessive accumulation of neutral lipids in multiple tissues. Recently, two genes, adipose triglyceride lipase ( ATGL/ PNPLA2) and comparative gene identification-58 ( CGI-58/ABHD5), have been shown to cause NLSD. ATGL specifically hydrolyzes the first fatty acid from triacylglycerols (TG) and CGI-58/ABHD5 stimulates ATGL activity by a currently unknown mechanism. Mutations in both the ATGL and the CGI-58 genes are associated with systemic TG accumulation, yet the resulting clinical manifestations are not identical. Patients with defective ATGL function suffer from more severe myopathy (NLSDM) than patients with defective CGI-58 function. On the other hand, CGI-58 mutations are always associated with ichthyosis (NLSDI), which was not observed in patients with defective ATGL function. These observations indicate an ATGL-independent function of CGI-58. This review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism.

Characteristic Scattergram of White Blood Cells Obtained Using the Pentra MS CRP Hematology Analyzer in a Patient with Neutral Lipid Storage Disease

2013 ◽  
Vol 19 (4) ◽  
pp. 22-24 ◽  
Author(s):  
Tohru Inaba ◽  
Naoyuki Nomura ◽  
Mayako Takahashi ◽  
Katsutoshi Ishizuka ◽  
Kazunori Yoshika ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Blood Cells ◽  
Storage Disease ◽  
White Blood Cells ◽  
Lipid Storage ◽  
Lipid Storage Disease ◽  
Hematology Analyzer ◽  
Neutral Lipid Storage Disease

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant

2018 ◽  
Vol 28 (7) ◽  
pp. 606-609 ◽  
Author(s):  
Caitlin S. Latimer ◽  
Jennifer Schleit ◽  
Adam Reynolds ◽  
Desiree A. Marshall ◽  
Benjamin Podemski ◽  
...  
Keyword(s):  
Neutral Lipid ◽  
Storage Disease ◽  
Lipid Storage ◽  
Phenotypic Characterization ◽  
Lipid Storage Disease ◽  
Neutral Lipid Storage Disease
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