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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.
Biomarker and diagnostic research for neutral lipid storage disease has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
33 publications have been identified in PubMed for neutral lipid storage disease. Research spans Case Report / Case Series (76%), Basic Science / Preclinical (9%), and Review / Meta-Analysis (6%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 25 | 76% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
3 |
9% |
Research summaries | 2 | 6% |
Other research | 1 | 3% |
Testing and diagnosis research | 1 | 3% |
Disease patterns and progression | 1 | 3% |
Faedo E (2026). [PMID: 42266408](https://pubmed.ncbi.nlm.nih.gov/42266408/). *Front Genet*. [Case Report / Case Series]
Desai S (2026). [PMID: 41622608](https://pubmed.ncbi.nlm.nih.gov/41622608/). *Annals of Indian Academy of Neurology*. [Case Report / Case Series]
Cai H (2026). [PMID: 41749838](https://pubmed.ncbi.nlm.nih.gov/41749838/). *Cancers (Basel)*. [Review / Meta-Analysis]
Dong F (2026). [PMID: 41856356](https://pubmed.ncbi.nlm.nih.gov/41856356/). *Can J Cardiol*. [Case Report / Case Series]
Dong F (2026). [PMID: 42161629](https://pubmed.ncbi.nlm.nih.gov/42161629/). *Zhonghua Xin Xue Guan Bing Za Zhi*. [Case Report / Case Series]
Raychaudhuri SP (2026). [PMID: 42262789](https://pubmed.ncbi.nlm.nih.gov/42262789/). *Indian Dermatol Online J*. [Other]
Gemmink A (2026). [PMID: 41224118](https://pubmed.ncbi.nlm.nih.gov/41224118/). *Biochimica et biophysica acta. Molecular and cell biology of lipids*. [Basic Science / Preclinical]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta dermato-venereologica*. [Case Report / Case Series]
Ma HW (2025). [PMID: 40240022](https://pubmed.ncbi.nlm.nih.gov/40240022/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]
Şenol HB (2025). [PMID: 39911175](https://pubmed.ncbi.nlm.nih.gov/39911175/). *Molecular syndromology*. [Case Report / Case Series]
AI-curated news mentioning neutral lipid storage disease
Updated Mar 17, 2026
A recent study highlights a rare presentation of dilated cardiomyopathy linked to a PNPLA2 gene mutation in patients with neutral lipid storage disease and myopathy. This discovery may enhance understanding of the genetic underpinnings of these conditions.