Clinical Features of Lysosomal Acid Lipase Deficiency
- Burton, Barbara K.
- Deegan, Patrick B.
- Enns, Gregory M.
- Guardamagna, Ornella
- Horslen, Simon
- Hovingh, Gerard K.
- Lobritto, Steve J.
- Malinova, Vera
- McLin, Valerie A.
- Raiman, Julian
- Di Rocco, Maja
- Santra, Saikat
- Sharma, Reena
- Sykut-Cegielska, Jolanta
- Whitley, Chester B.
- Eckert, Stephen
- Valayannopoulos, Vassili
- Quinn, Anthony G.
DOIAbstract
The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. 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. 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 <20 years of age at the time of consent/assent. Serum transaminases were elevated in most patients with 458 of 499 (92%) of alanine aminotransferase values and 265...
Add to ORKG