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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