Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neutral lipid storage disease

Triglyceride storage diseases is a group of autosomal recessive disorders characterized by accumulation of triglycerides and abnormal serum lipids. It might be further complicated by ichtiosis or myopathy.

Systematic

Hereditary lipid disorders
Attenuated cholesterol lowering by statins
Disorders of mRNA editing
Disturbances of body fat distribution
Disturbed regulators of lipid and carbohydrate metabolism
Dyslipidemia
Hepatic CPT-deficiency type 1A
Neutral lipid storage disease
Neutral lipid storage disease with ichtiosis
ABHD5
Neutral lipid storage disease with myopathy
PNPLA2
Sea-blue histiocyte disease
Statin intolerance
Tangier Disease

References:

1.

Lefèvre C et. al. (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

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2.

Fischer J et. al. (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

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3.

Akiyama M et. al. (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

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4.

Reilich P et. al. (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

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5.

Lin P et. al. (2012) Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

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6.

Markesbery WR et. al. (1974) Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes.

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7.

Rozenszajn L et. al. (1966) Jordans' anomaly in white blood cells. Report of case.

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8.

Angelini C et. al. (1980) Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

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9.

Fischer J et. al. (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

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10.

EI-Kabbany Z et. al. (2003) Dorfman-Chanarin syndrome in Egypt.

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11.

None (1953) The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

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12.

Huigen MC et. al. (2015) Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

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13.

Janssen MC et. al. (2013) Symptomatic lipid storage in carriers for the PNPLA2 gene.

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Update: Sept. 26, 2018