Neutral lipid storage disease

MONDO:0015611

Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.

Also known as: lipidosis with triglyceride storage disease, Chanarin-Dorfman syndrome, lipidosis with triglycerid storage disease

2 clinical trials for this condition and its sub-types, 1 tagged with Neutral lipid storage disease itself.

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Where it sits in the disease tree

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Part of

↑ Lysosomal lipid storage disorder (192) ↑ Disorder of phospholipids, sphingolipids and fatty acids biosynthesis (15)

Sub-types of Neutral lipid storage disease

Dorfman-Chanarin disease 1 trial
Triglyceride deposit cardiomyovasculopathy 1 trial
2 sub-types
- Idiopathic triglyceride deposit cardiomyovasculopathy 0 trials
- Primary triglyceride deposit cardiomyovasculopathy 0 trials
Neutral lipid storage myopathy 0 trials

Including sub-types (2) Tagged with Neutral lipid storage disease (1)

Trials to join now! 1

Scientists launch worldwide registry to unlock rare Fat-Storage disease

Knowledge-focused Recruiting now

This study is creating an international registry for people with neutral lipid storage disease (NLSD), a rare condition where fat builds up in cells, especially affecting the heart. Researchers will collect medical history, track disease progression, and look for factors that inf…

Sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:02 UTC

Neutral lipid storage disease

Where it sits in the disease tree

Scientists launch worldwide registry to unlock rare Fat-Storage disease