Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hepatischer CPT-Mangel Typ 1A

Hepatischer CPT-Mangel Typ 1A ist ein autosomal rezessive Erkrankung des Fettstoffwechsels, die durch Mutationen im CPT1A-Gen hervorgerufen wird.

Gliederung

Erbliche Fettstoffwechselerkrankungen
Dyslipidämie
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
Hepatischer CPT-Mangel Typ 1A
CPT1A
Meerblaue Histiozytenerkrankung
Statin-Intoleranz
Störung der Körperfettverteilung
Störungen der mRNA-Editiertfunktion
Tangier Erkrankung
Triglyceridspeicherkrankheit
Vermindete Cholesterinsenkung durch Statine

Referenzen:

1.

IJlst L et. al. (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

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2.

Gobin S et. al. (2002) Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

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3.

Haworth JC et. al. (1992) Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.

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4.

Stanley CA et. al. (1992) Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.

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5.

Falik-Borenstein ZC et. al. (1992) Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency.

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6.

Demaugre F et. al. (1988) Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.

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7.

Bougnères PF et. al. (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

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8.

Innes AM et. al. (2000) Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.

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9.

Olpin SE et. al. (2001) Features of carnitine palmitoyltransferase type I deficiency.

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10.

Sim KG et. al. (2001) Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.

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11.

Roomets E et. al. (2006) Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.

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