Kuloğlu, ZarifeKansu, AydanSelbuz, SunaKalaycı, Ayhan G.Şahin, GülserenKırsaçlıoğlu, Ceyda TunaDemirören, KaanDalgıç, BüketKasırga, ErhunÖnal, Zerrinİslek, AliEren, EsraHoşnut, Ferda ÖzbayUrgancı, NafiyeYaman, AytaçÖzkan, TanjuBozbulut, EkşiDoğan, GüzideEkşi Bozbulut, NeslihanDoğan, GüzideDurmaz Uğurcan, ÖzlemUsta, Ayşe MerveArslan, DuranAkçam, MustafaIsik, Ishak AbdurrahmanEcevit, Çigdem ÖmürUsta, YusufÖzgür, TanerÖzçay, FigenBalamtekin, NecatiÖztürk, YesimBalamtekin, NecatiÖztürk, YeşimCantez, SerdarGülerman, FulyaUstundag, Gonca HandanEmiroğlu, Halil HaldunKaracabey, NeslihanComba, AtakanErdemir, GülinAydoğan, Aysen UncuoğluGökçe, SelimKuyum, PınarGülsan, MeltemTosun, Mahya SultanTokgöz, YavuzGüven, BurcuYüksekkaya, HasanTümgör, GökhanEren, MakbuleBaran, MaşallahGümüş, MeltemCanan, OğuzKocamaz, HalilGerenli, NelginÇakır, MuratAgiı, MehmetHızlı, SamilDoğan, YasarÇeltik, CoşkunDeveci, UğurBalcı Sezer, OyaNatl Lal-D Study Grp2024-07-242024-07-242019-03-010277-2116https://doi.org/10.1097/MPG.0000000000002224https://onlinelibrary.wiley.com/doi/10.1097/MPG.0000000000002224https://hdl.handle.net/11452/43403Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study.Methods: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled. A Web-based electronic data collection system was used. LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D(<0.02), intermediate (0.02-0.37) or normal (>0.37). Asecond dried blood spot sample was obtained from patients with intermediate LAL activity for confirmation of the result.Results: A total of 810 children (median age 5.6 years) from 795 families were enrolled. The reasons for enrollment were unexplained transaminase elevation (62%), unexplained organomegaly (45%), obesity-unrelated liver steatosis (26%), cryptogenic fibrosis and cirrhosis (6%), and liver transplantation for cryptogenic cirrhosis (<1%). LAL activity was normal in 634 (78%) and intermediate in 174 (21%) patients. LAL-D was identified in 2 siblings aged 15 and 6 years born to unrelated parents. Dyslipidemia, liver steatosis, and mild increase in aminotransferases were common features in these patients. Moreover, the 15-year-old patient showed growth failure and microvesicular steatosis, portal inflammation, and bridging fibrosis in the liver biopsy. Based on 795 families, 2 siblings in the same family were identified as LAL-D cases, making the prevalence of LAL-D in this study population, 0.1% (0.125%-0.606%). In the repeated measurement (76/174), LAL activity remained at the intermediate level in 38 patients.Conclusions: Overall, the frequency of LAL-D patients in this study (0.1%) suggests that LAL-D seems to be rare even in the selected high-risk population.eninfo:eu-repo/semantics/openAccessEster storage diseaseWolmanChildrenLiverLysosomal acid lipase deficiencyScience & technologyLife sciences & biomedicineGastroenterology & hepatologyNutrition & dieteticsPediatricsGastroenterology & hepatologyNutrition & dieteticsPediatricsArticle00046107760002437137668310.1097/MPG.00000000000022241536-4801