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The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease

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Supplementary Table S1. Definitions of laboratory abnormalities

Laboratory abnormality Definition

Leukopenia White blood cell count <1500 /mm3

Thrombocytopenia Platelet count <150 000 mm3

Anemia Hemoglobin level <10.5 g/dL

Hyperbilirubinemia Total bilirubin level > 3 mg/dL Direct hyperbilirubinemia Direct bilirubin level >2 mg/dL

Hypoalbuminemia Albumin level <3.5 g/dL

Prolonged PT PT >14 seconds

High INR ratio INR ratio >1.5

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Supplementary Table S2. Classification of total, LDL and HDL cholesterol and tryglyceride levels in children Total cholesterol (mg/dL) LDL cholesterol (mg/dL) HDL cholesterol (mg/dL) Triglyceride (mg/dL) Low <40 Borderline low 40-45 Acceptable <170 <110 >45 <75 (1-9 years) <90 (10-19 years)

Borderline high 170-199 110-129 75 -99 (1-9 years)

90-129 (10-19 years)

High ≥200 ≥130 ≥100 (1-9 years)

≥130 (10-19 years) LDL; low-density lipoprotein; HDL, high-density lipoprotein

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Supplementary Table S3 Clinical findings of the study population Parameter Value HAZ, Mean ±SD -0.41±1.68 WAZ, Mean ±SD -0.42±1.31 BMIZ, Mean ±SD -0.2±1.11 Undernutrition, n (%) 92 (11) Stunting, n (%) 47 (6) Wasting, n(%) 56 (7) Hepatomegaly, n (%) 377 (47) Splenomegaly, n (%) 179 (22) Jaundice, n (%) 51 (6) Ascites, n (%) 18 (2) Palmar erythema, n (%) 11 (1) Edema, n (%) 9 (1) Spider nevus, n (%) 8 (<1) Xanthoma, n (%) 8 (<1)

SD, standard deviation; HAZ, Height for age Z score; WAZ, Weight for age Z score; BMIZ, Body mass index for age Z score

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Supplementary Table S4 Laboratory findings of study population

Parameter Value

White blood cell count (mm3), Mean ±SD 8714±3564

Hemoglobin (g/dL), Mean ±SD 12.1 ±1.8

Platelet count (mm3), Mean ±SD 295 444 ±127 280

ALT (xULN)* 2.7 (0.53-56.8) AST (xULN)* 2.5 (0.35-56) GGT (xULN)* 2.2 (1-28.7) Total bilirubin (mg/dL)* 0.47 (0.3-31.6) Direct bilirubin (mg/dL)* 0.16 (0.01-24.36) Albumin (g/dL), mean ±SD 4.2 ±0.5 PT (sn) mean ±SD 12.9±3.1 INR mean ±SD 1.1±0.6 *Median (Range)

SD, standard deviation; ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, γ-glutamyl transpeptidase;ULN, upper limit of normal, PT, prothrombin time; INR, International Normalized Ratio

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Supplementary Table S5. Lipid profile of study population mg/dL * Acceptable n, (%) Bordeline high n, (%) High n, (%) Bordeline low n, (%) Low n, (%) Total cholesterol 145.7±46.2 616 (76) 123 (15.2) 71 (8.8) LDL cholesterol 85.1±42.4 645 (79.6) 95 (11.7) 70 (8.6) HDL cholesterol 40.4±15.2 268 (33) - - 174 (22) 368 (45) Triglyceride 120.1±84.2 287 (35.4) 182 (22.5) 341 (42.1) *Mean ±SD

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