Clinical Features of Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Patrick B. Deegan, Gregory M. Enns, Ornella Guardamagna, Simon Horslen, Gerard K. Hovingh, Steve J. Lobritto, Vera Malinova, Valerie A. McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut-Cegielska, Chester B. Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G. Quinn

Research output: Contribution to journalArticle


Objective: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. Methods: Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. Results: A total of 49 patients were enrolled; 48 had confirmed LAL D. Mean age at first disease-related abnormality was 9.0 years (range 0-42); mean age at diagnosis was 15.2 years (range 1-46). Twenty-nine (60%) were male patients, and 27 (56%) were

Original languageEnglish
Pages (from-to)619-625
Number of pages7
JournalJournal of Pediatric Gastroenterology and Nutrition
Issue number6
Publication statusPublished - Dec 1 2015



  • cholesteryl ester storage disease
  • LIPA deficiency
  • Wolman disease

ASJC Scopus subject areas

  • Gastroenterology
  • Pediatrics, Perinatology, and Child Health

Cite this

Burton, B. K., Deegan, P. B., Enns, G. M., Guardamagna, O., Horslen, S., Hovingh, G. K., Lobritto, S. J., Malinova, V., McLin, V. A., Raiman, J., Di Rocco, M., Santra, S., Sharma, R., Sykut-Cegielska, J., Whitley, C. B., Eckert, S., Valayannopoulos, V., & Quinn, A. G. (2015). Clinical Features of Lysosomal Acid Lipase Deficiency. Journal of Pediatric Gastroenterology and Nutrition, 61(6), 619-625.