Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hepatic CPT-deficiency type 1A

Hepatic CPT-deficiency type 1A is an autosomal recessive disorder of lipid metabolism caused by mutations of the CPT1A-Gene.

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
CPT1A
Neutral lipid storage disease
Sea-blue histiocyte disease
Statin intolerance
Tangier Disease

References:

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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12.

OMIM.ORG article

Omim 255120 [^]
Update: April 29, 2019