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Table 1 Clinical information for two patients with infantile-onset lysosomal acid lipase deficiency treated with enzyme replacement therapy (ERT)

From: Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

  Patient 1 Patient 2
Current age 27 months 22 months
Sex Male Female
Molecular results from LIPA gene sequencing Compound heterozygous pathogenic variants: c.539-2A>G and c.684delT Homozygous for c.656 T>G (p.Leu219*)
Lysosomal acid lipase enzymatic result at diagnosis 0.0 nmol/h/mL (Normal: > 21.0) 0.0 nmol/h/mL (Normal: > 21.0)
Age at diagnosis 6.5 months 2 months (1 month corrected age; born at 36-weeks gestation)
Age at initiation of ERT 7 months 2.5 months
Presentation at diagnosis Failure to thrive, hepatosplenomegaly, poor feeding, blood in stool, constipation, spitting up Failure to thrive, hepatosplenomegaly, loose stools, no vomiting, anemia and thrombocytopenia
Adrenal calcifications present at diagnosis Yes Yes
Weight Z scores:   
 at diagnosis −3.52 −3.19 (−1.48 for corrected age)
 after 8 months of ERT −2.48 −3.27 (− 3.04 for corrected age)
 after 18 months of ERT −1.7 − 1.18 (− 1.03 for corrected age)
Adrenal insufficiency Partial None
Other endocrinology concerns Hypothyroidism  
Hematologic concerns Mild and stable anemia, now resolved; intermittent eosinophilia, now resolved Secondary hemophagocytic lymphohistiocytosis; iron deficiency anemia
Cardiac evaluation Unremarkable Innocent murmur
Developmental Milestones Receives early intervention Receives early intervention
Sitting 7 months 11 months
Walking 13.5 months 19 months
Speech Mildly delayed Couple of words at 20 months
Current diet Monogen formula, with fat restriction from foods, and additional medium-chain triglyceride (MCT) oil Monogen 24 kcals/oz. ad lib (~ 20 oz. per day), with regular diet
ERT side effects Elevated temperature for one occurrence Urticaria
ERT dosage First dose 1 mg/kg; after 3 weeks increased to 3 mg/kg; after 17 months of ERT, increased to 5 mg/kg Increased from 3 mg/kg to 5 mg/kg