Neutral lipid storage disease
NLSDI is distinguished by ichthyosiform erythroderma, intellectual deficit, vision, auditory, and liver abnormalities, and sometimes psychomotor delay. Cardiomyopathy is less commonly associated with NLSDI, and serum creatine kinase may be normal.
NLSDM presents with signs and symptoms of slowly progressive myopathy or skeletal muscle weakness, pain, and atrophy, hepatomegaly, hypertriglyceridemia, and severe dilated cardiomyopathy that can cause premature death. Other associations include insulin resistance, pancreatitis, hypothyroidism, type 2 diabetes mellitus, and sensorineural deafness. Elevations in serum creatine kinase are often seen.
The incidence of NLSDs is not well established; they are rare diseases. Approximately 50 cases are reported in the published literature of which 3 are NLSDM cases and the remaining are NLSDI cases. Patients live into adulthood, and symptoms may first present in a patient's 30s or 40s.
Management may consist of symptomatic relief and a minimal long-chain fat diet. Treatment studies to reduce circulating triglyceride levels are underway.
E75.5 – Other lipid storage disorders
10741005 – Lipid storage disease
Differential Diagnosis & Pitfalls
- Carnitine palmitoyltransferase 1A deficiency
- Carnitine acylcarnitine translocase deficiency
- Carnitine palmitoyltransferase 2 deficiency
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency
- Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
- 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency