Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease?

Triglycerides and cholesterol esters accumulated in the liver of a patient showing failure to thrive, hepatomegaly and anemia. Acid lipase activity was low but not completely deficient in liver and leukocytes. Correlations of clinical and biochemical data are discussed with special reference to Wolm...

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Veröffentlicht in:	Clinica chimica acta 1976-06, Vol.69 (2), p.219-224
Hauptverfasser:	Yoshiyuki, Suzuki, Sakae, Kawai, Akio, Kobayashi, Yoshiro, Ohbe, Haruhisa, Endo
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Cholesterol - analogs & derivatives Cholesterol Esters - metabolism Chromatography, Thin Layer Fatty Liver - metabolism Humans Lipase - deficiency Lipidoses - genetics Liver - metabolism Male Syndrome Triglycerides - metabolism Xanthomatosis - genetics Xanthomatosis - metabolism
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Beschreibung
Zusammenfassung:	Triglycerides and cholesterol esters accumulated in the liver of a patient showing failure to thrive, hepatomegaly and anemia. Acid lipase activity was low but not completely deficient in liver and leukocytes. Correlations of clinical and biochemical data are discussed with special reference to Wolman's disease and cholesterol ester storage disease.
ISSN:	0009-8981 1873-3492
DOI:	10.1016/0009-8981(76)90499-X