Table 1.

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

	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