Table 1 Main characteristics and outcomes of included studies

Tong et al. [17]

Coh

2 (1:1)

Developmental delay, Hepatosplenomegaly, Dystrophia, Neutropenia,

2.5

China

2 patients

Non-consanguineous

NR

NR

ES/ Exome Sequencing TruSight One Gene Panel

Neurodevelopmental Disease

1 GSD Ia, 1 GSD Ib

2 × 100–150 bp

142×

HiSeq2500 (Illumina)

YES

Both parent

Roscher et al. [20]

Coh

21 (17:4)

Hepatomegaly, liver fibrosis and adenoma, mild cardiomyopathy

11.7

Canada

2 patients

Non-consanguineous

YES: 14 patients

YES: 10 patients

TGS/NA

GSD III or GSD VI

11 patients GSD IXa; 3 patients GSD IXb; 3 patients GSD IXc; 4 patients GSD VI

2 × 100 bp

100×

HiSeq2000 (Illumina)

YES both parents

Skakik et al. [23]

Coh

5 M

Hepatomegaly and hypoglycemia

1.3

Serbia

YES

Non-consanguineous

YES

YES

ES/ Exome Sequencing TruSight One Gene Panel

Hepatic GSD

GSD III, VI, IXa as well as in non-GSD associated genes, LIPA and SBDS, responsible for cholesteryl-ester storage disease and Schwachman-Diamond syndrome respectively

2 × 100 bp

100 × 

MiSeq (Illumina)

NO

Vega et al. [7]

Coh

22(13:9)

Hepatomegaly, dysmorphic facies, hypoglycemia, hyperuricemia, hyperlipidemia and kidney failure, hypertransaminasemia,

13.5

Spain

YES

NR

NR

NR

TGS/Metabolic disorders panel (Agilent)

ES/ Exome Sequencing TruSight One Gene Panel

GSDs

11 NOT detected by TGS:4 Detected (GSD III, VI, IXb, ALDOB)

18 repeated and detected by ES (1 GSD Ib, 6 GSD III, 7 GSD IXa) as well as in not GSD associated genes, LIPA, CPT2, ANO5, NKX2-5

2 × 250 bp

2 × 250 bp

400×

83.6×

MiSeq (Illumina)

YES parents

Zhang et al. [24]

Coh

17 M

hepatomegaly, growth retardation, and liver dysfunction

9.9

China

7 YES, 10 NO

Non-consanguineous

NO

8 YES, 9 NO

TGS/ GSD panel (Agilent)

GSD IX

17 GSD IXa

2 × 100 bp

100×

HiSeq2000 (Illumina)

NO

Wang et al. [2]

CS

16(9:7)

Hypoglycemia and mild hepatosplenomegaly, lactic acidosis, neutropenia

6.5

USA

YES

15 Non-consanguineous:1 Consanguineous

YES

YES

TGS/ GSD panel (Agilent)

GSDs

8 detected and matched with signs (1 GSD Ia, 2 GSD Ib, 3 GSD III, 2 GSD IXa), 4 detected truly with TES but direct seq. not found mut (1 suspected as GSD Ia, recognized as GSD Ib; 1 suspected as GSD 0 recognized as GSD IXc.; 1 suspected as GSD III recognized as GSD VI; 1 suspected as GSD VI or IX recognized as GSD IXa, 5 suspected as hepatic GSD but NOT detected by TGS

1 × 100 bp

758×

HiSeq2000 (Illumina)

5 YES Both parents, 11 NO

Wang et al. [21]

CS

3 M

Hepatomegaly and hypertriglyceridemia

7.3

USA

NO

Non-consanguineous

NR

NR

ES/NA

Hepatic GSD

3 GSD III

1 × 100 bp

 ~ 1000×

HiSeq2000 (Illumina)

NO

Choi et al. [19]

CS

2 M

Hepatomegaly, elevated AST and ALT levels, neutropenia

0.83

Korean

YES

Non-consanguineous

YES

YES

ES/NA

GSD I

2 GSD Ib

2 × 150–200 bp

NR

HiSeq2000 (Illumina)

NO

Fahiminiya et al. [18]

CS

1 M

Hepatomegaly, and recurrent hypoglycemia

6

Qatar

YES

Consanguineous

YES

YES

ES/NA

GSD I or III

1 GSD IXc

2 × 100 bp

100×

HiSeq2000 (Illumina)

NO

Rousseau-Nepton et al. [22]

C- series

2 (1:1)

Abdominal distension with hepatomegaly, difficulty walking

1.4

Canada

YES

Non-consanguineous

YES

NO

ES/NA

GSD I or III

2 GSD III

NR

100x

HiSeq2000 (Illumina)

YES Parents and siblings

Yang et al. [25]

C-series

3 M

Increased transaminase, Hepatomegaly, Hypoglycemic

2.8

China

1YES, 2 NO

1Consanguineous, 2 Non-consanguineous

YES

1 YES

TGS/ 300 genes associated with hepatopathy panel

Metabolic liver disorders

3 GSD IXa

NR

100×

HiSeq2500 (Illumina)

YES Parents and siblings