Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Triglyceridspeicherkrankheit mit Ichtiosis

Das Chanarin-Dorfman-Syndrom ist eine autosomal rezessive Erkrankung, welche durch Mutationen im ABHD5-Gen hervorgerufen wird. Das klinische Bild ist von einer Ansammlung langkettiger Triglyceride und einer Ichtiose geprägt.

Gliederung

Triglyceridspeicherkrankheit
Triglyceridspeicherkrankheit mit Ichtiosis
ABHD5
Triglyceridspeicherkrankheit mit Myopathie

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.

Miranda A et. al. () Lipid storage myopathy, ichthyosis, and steatorrhea.

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3.

Chanarin I et. al. (1975) Neutral-lipid storage disease: a new disorder of lipid metabolism.

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4.

Musumeci S et. al. (1988) Ichthyosis and neutral lipid storage disease.

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5.

Williams ML et. al. (1985) Ichthyosis and neutral lipid storage disease.

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6.

Dorfman ML et. al. (1974) Ichthyosiform dermatosis with systemic lipidosis.

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7.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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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13.

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

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