Table 2 Summary of the key clinical and genetic data of the 36 reported biallelic patients with the GPD1 variants

Present

1

36y

47y

male

China

c.981G > C,

p. K327N

exon8

Heterozygote

Y

17.82

Y

Y

8 episodes of AP. Overweight

Basel-Vanagaite et al. (2012)

2

1 m

14y

male

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

70.56

Y

Y

Case2-4 were from the same family; Short in stature; Obesity; Insulin resistance

Basel-Vanagaite et al. (2012)

3

1 m

10y

male

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

2.83

Y

Y

Vomiting

Basel-Vanagaite et al. (2012)

4

4 m

12y

male

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

11.18

Y

Y

Short in stature

Basel-Vanagaite et al. (2012)

5

at birth

23y

male

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

5.87

Y

Y

case5-6 were from the same family; Short in stature; splenomegaly

Basel-Vanagaite et al. (2012)

6

6 m

3y

female

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

13.65

Y

Y

Developmental retardation

Basel-Vanagaite et al. (2012)

7

2.5 m

4y

female

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

3.94

Y

Y

Case7-9 were from the same family; Vomiting

Basel-Vanagaite et al. (2012)

8

7 m

1y

female

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

2.92

Y

Y

Splenomegaly

Basel-Vanagaite et al. (2012)

9

7 m

1y

female

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

2.91

Y

Y

Splenomegaly

Basel-Vanagaite et al. (2012)

10

9 m

12y

male

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

3.73

Y

Y

Case10-11 were from the same family; Short in stature; horseshoe kidney

Basel-Vanagaite et al. (2012)

11

3.5 m

12y

male

Israel

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

2.54

Y

Y

Short in stature;

Li et al. (2017)

12

7y

13y

male

China

c.220–2 A > G;c.820G > A,p. A274T

intron2;exon6

Compound heterozygote

N

/

N

N

Short in stature; Obesity; Insulin resistance

Li et al. (2018)

13

3.5 m

NA

male

China

c.523 C > T, p. Q175*

exon4

Homozygote

Y

10.94

Y

Y

Splenomegaly

Ma et al. (2021)

14

1 m

1y

male

China

c.901G > T,p.E301*;c.220–2 A > G

exon7;intron2

Compound heterozygote

Y

19.08

Y

Y

Liver fibrosis

Xie et al. (2021)

15

1 m

12 m

female

China

c.901G > T,p.E301*;

Deletion > 5.1 kb at a different locus;

exon7

Hemizygous

Y

9.2

Y

N

Xie et al. (2021)

16

13 m

19 m

male

China

c.931 C > T,p.Q311*;c.901G > T,p.E301*

exon7;exon7

Compound heterozygote

Y

15.14

Y

N

Dionisi-Vici et al. (2016)

17

10 m

14 m

male

Arab Muslim

c.806G > A, p.R269Q

exon6

Homozygote

Y

1.92

Y

Y

Consanguineous marriage; Liver fibrosis

Dionisi-Vici et al. (2016)

18

1y

3y

female

NA

c.361-1G > C, p.I119fs*94

intron3

Homozygote

Y

13.33

Y

Y

Dionisi-Vici et al. (2016)

19

5 m

7y

male

Italy

c.640T > C, p.C214R

exon5

Homozygote

Y

5.27

Y

Y

Consanguineous marriage, cirrhosis of the liver, dicarboxyuria

Dionisi-Vici et al. (2016)

20

2y

31y

male

Italy

c.640T > C, p.C214R

exon5

Homozygote

Y

2.41

Y

Y

Persistent hypertriglyceridemia;

Joshi et al. (2014)

21

5 m

1.5y

female

America

c.686G > A, p.R229Q; Deletion > 1.85 kb at a different locus;

exon6

Hemizygous

Y

9.48

Y

Y

Developmental retardation; vomiting

Matarazzo et al.(2020)

22

1y

16y

male

Russia

c.895G > A, p.G299R

exon7

Homozygote

Y

11.49

Y

Y

Persistent hypertriglyceridemia, fenofibrate treatment is effective

lin et al.(2021)

23

4 m

4y

female

China

c.454 C > T,p.Q152*

exon4

Homozygote

Y

4.39

Y

Y

Short in stature;

Wang et al.(2021)

24

1 m

13 m

female

China

c.901G > T,p.E301*; A short fragment heterozygous deficiency

exon7

Hemizygous

Y

6.36

Y

Y

Persisted jaundice and hepatomegaly

Leo Polchar et al.(2022)

25

28 m

6y

female

South Asian

c.500G > A, p.G167D

exon4

Homozygote

Y

8.9

Y

Y

Faltering growth, hepatomegaly and raised transaminases; consanguineous marriage

Pawan Kumar et al.(2021)

26

5 m

11 m

male

India

c.500G > A,

p.G167D

exon4

Homozygote

Y

NA

N

Y

Massive hepatomegaly and mild splenomegaly

Tesarova et al.(2021)

27–35

2-17y

NA

NA

Roma

c.895G > A, p.G299R

exon7

Homozygote

Y

2.13-12

Y

6 of 10 patients

Early onset moderate to severe hepatomegaly (9 of 10 patients)

Tesarova et al.(2021)

36

male

Palestinian Arab

c.116G > A, p.Trp39*

exon2

Homozygote