TGCV/NLSD Patient Group

The TGCV/NLSD Patient Group provides a platform for people who suffer from triglyceride deposit cardiomyovasculopathy (TGCV) or neutral lipid storage disease (NLSD), their families and friends to share their experiences. The missions are to help people with TGCV or NLSD to
1) understand the disease process, risk factors and treatment modalities,
2) empower patients and family members,
3) fight against the diseases, and
4) create any conditions to overcome the diseases.

TGCV is a phenotype primarily reported in patients requiring cardiac transplantation in Japan. Abnormal intracellular TG metabolism results in TG deposition in both myocardium and coronary arteries. TGCV is classified into two subtypes: primary TGCV with PNPLA2 mutations and idiopathic TGCV without PNPLA2 mutations. Most patients with TGCV developed severe heart failure or coronary artery disease with diffuse narrowing multi-vessel lesions.

NLSD is a rare disease that affects very small number of people worldwide. NLSD is heterogeneous, currently including NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I).

NLSD-M is neutral lipid accumulated in various tissues of the body resulted from mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL), an essential molecule for the intracellular triglyceride (TG) hydrolysis. The main clinical characteristics are mild~progressive skeletal myopathy.

NLSD-I is caused by extremely rare mutations in the ABHD5 gene encoding CGI-58, a co-enzyme of ATGL. It is characterized mainly by dry, scaly skin at birth as well as progressive fatty liver disease.
Become a member
You are free to join the TGCV/NLSD Patient Group. Please contact us to obtain an application form by email or telephone/Fax. Also, you may download the application form from our website

Contact us:
If you need any assistance,
1) Please email us
E-mail address:
2) Please call us or send a Fax to us
Our hours of operation are Monday - Friday, 9:00 am - 5:00 pm JST
TEL/FAX 0081-6-6872-8215  Staff: Ming Li

Privacy protection
Personal information is protected according to the Personal Information Protection Act and related laws and regulations.

National Organization for Rate Disorders:
Rare Diseases Clinical Research Network: