Pediatric clinical phenotype variant of lysosomal acid lipase deficiency responsive to an HMG CoA reductase inhibitor (simvastatin) plus cholestyramine | Health & Environmental Research Online (HERO)

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Citation
Tags

HERO ID

2750047

Reference Type

Technical Report

Title

Pediatric clinical phenotype variant of lysosomal acid lipase deficiency responsive to an HMG CoA reductase inhibitor (simvastatin) plus cholestyramine

Author(s)

Leone, L; Antonicelli, R; Giunta, S; Paciaroni, E; Ippoliti, PF

Year

1993

Report Number

IPA/93/1030213

Issue

REF 14

Page Numbers

35-38

Language

English

Abstract

IPA COPYRIGHT: ASHP The case of a 4-yr-old boy with genetically transmitted lysosomal acid lipase deficiency (cholesterol ester storage disease) is presented. The patient was put on a hypolipidic diet, cholestyramine resin (0.22 g/kg twice daily), simvastatin (0.28 mg/kg/day), lipophilic vitamins, and folic acid. After 3 yr of treatment, a significant improvement in clinical and laboratory data was achieved.