Lecithin cholesterol acyltransferase deficiency

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**Lecithin cholesterol acyltransferase deficiency**
*Classification & external resources*
ICD-10	E 78.6
OMIM	245900 136120
DiseasesDB	7343
eMedicine	med/1270

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein metabolism. Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins. The disease has two forms: familial LCAT deficiency in which there is complete LCAT deficiency and fish eye disease inwhich there is a partial deficiency. Both are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22. A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. Symptoms of the familial form include diffuse corneal opacities, target cell hemolytic anemia and proteinuria with renal failure. Fish eye disease only causes progressive corneal opacification.

[edit] References

Kuivenhoven J, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (1997). "The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.". J Lipid Res 38 (2): 191-205. PMID 9162740.

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v • d • e Metabolic pathology (E70-90)
Amino acid	Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI), Fructose intolerance, Galactosemia
Lipid	Lipid storage disorders Sphingolipidoses: Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease) Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO₄³⁻ Hypophosphatemia/Hypophosphatasia - Mg²⁺ Hypermagnesemia/Hypomagnesemia - Ca²⁺ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na⁺ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H₂O Dehydration/Hypervolemia - K⁺ Hypokalemia/Hyperkalemia - Cl⁻ Hyperchloremia/Hypochloremia
Porphyrin and bilirubin	Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria)
Glycosaminoglycan	Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome
Glycoprotein	I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome