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Table 2 Summary of dietary management, growth and gastrointestinal (GI) function of the four surviving multimodal patients (patients 2–5)

From: Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

Patient

Time since HCT (August 2020)

Growth Z scores for age

Nutritional intake

Time (months) to resolution of gastrointestinal symptoms

Weight

Height

MUAC

Protein type

Fat (long chain) g/kg/day

Fat (long chain) Total g/day

Feeding route

2

4 years 6 months

Pre HCT

0.1

N/A

− 0.81

Pre HCT

Amino acids

0.2

2.6

Gastrostomy

15

  

Post HCT

0.55

0.59

0.79

Post HCT

Intact

≥ 1.3

≥ 30

Oral and reducing overnight feed (40%)

 

3

2 years 9 months

Pre HCT

0.97

0.33

0.01

Pre HCT

Amino acids

< 0.1

0.8

Gastrostomy

7

  

Post HCT

0.54

0.07

1.00

Post HCT

Intact

≥ 1.4

≥ 30

Oral and reducing overnight feed (15%)

 

4

2 years 1 month

Pre HCT

− 0.94

− 0.86

− 0.23

Pre HCT

Amino acids

< 0.1

0.8

Oral

1

  

Post HCT

1.95

0.70

N/A

Post HCT

Intact

1.7

30

Oral

 

5

10 months

Pre HCT

− 0.64

− 1.00

0.00

Pre HCT

Amino acids

< 0.1

0.8

Gastrostomy

10

  

Post HCT

− 0.59

− 1.40

0.07

Post HCT

Amino acids

≤ 0.3

≤ 5

Oral/gastrostomy

 
  1. GI gastrointestinal, MUAC mid upper arm circumference
  2. Pre HCT all had had severe GI involvement initially requiring modified, fat restricted total parenteral nutrition (TPN) and were then transitioned to amino acid based minimal fat enteral feeds. In patients 2,3 and 5 there was significant ongoing GI involvement with vomiting and significant diarrhoea. Despite ongoing GI disturbance normal growth was still achievable with weight, length/height and mid upper arm circumference (MUAC) for age Z scores all being within − 1 to + 1 pre HCT
  3. Immediately post HCT all cases had worsening of vomiting and diarrhoea and all required modified fat restricted TPN and then slow reintroduction of their pre HCT feeds. Vomiting was quicker to resolve than diarrhoea (≥ 3 episodes per day) which took up to around 10 months to resolve. Resolution of symptoms was quicker in patient 4, who had less GI pre HCT. Once diarrhoea resolved patients were then systematically transitioned from amino acid-based feeds to intact protein e.g. skimmed milk over a period of 4–8 weeks. During this period there was considerable improvement in oral aversion in patients 2 and 3 with them beginning to eat and over time requiring significantly reduced supplementary gastrostomy feeds
  4. Prior to HCT all patients were on minimal fat intakes. Post HCT patients 2, 3 and 4 have had a gradual increase in fat intake and are now eating a normal diet. There has been no change in GI function with increasing dietary fat intake. Growth parameters post HCT in these patients continue, so far, to be normal