Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Triglyceridspeicherkrankheit

Triglyceridspeicherkrankheiten sind autosomal rezessive Erkrankungen die durch Triglyceridansammlung und Myopathie oder Ichtiose gekennzeichnet sind. Auch Veränderungen der Serumlipide werden beobachtet.

Gliederung

Erbliche Fettstoffwechselerkrankungen
Dyslipidämie
Hepatischer CPT-Mangel Typ 1A
Meerblaue Histiozytenerkrankung
Statin-Intoleranz
Störung der Körperfettverteilung
Störungen der mRNA-Editiertfunktion
Tangier Erkrankung
Triglyceridspeicherkrankheit
Triglyceridspeicherkrankheit mit Ichtiosis
ABHD5
Triglyceridspeicherkrankheit mit Myopathie
PNPLA2
Vermindete Cholesterinsenkung durch Statine

Referenzen:

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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