Table 2. [Disorders in the Differential Diagnosis of Glycogen Storage Disease Type I]. - GeneReviews®

Gene	DiffDx Disorder	MOI	Features of DiffDx Disorder
AGL	Debranching enzyme deficiency (GSD III)	AR	Hepatomegaly Fasting hypoglycemia ↑ AST/ALT Hyperlipidemia	AST & ALT usually markedly ↑ Muscle involvement w/↑ CK Normal uric acid, lactate
FBP1	Fructose-1,6-bisphosphatase deficiency ¹	AR	Hepatomegaly Fasting hypoglycemia ↑ AST/ALT	Fasting hyperlactatemia
GBA1 (GBA)	Gaucher disease ²	AR	Hepatomegaly Growth failure Hyperlipidemia Pulmonary hypertension (rare) Bone disease / osteoporosis	No fasting hypoglycemia Significant splenomegaly Bone infarcts, AVN of femoral head & pulmonary involvement in the form of pulmonary infiltrates
GBE1	Branching enzyme deficiency (See GSD IV.)	AR	Hepatomegaly ↑ AST/ALT	Lack of hypoglycemia until end-stage liver disease Liver cirrhosis
GK	Glycerol kinase deficiency (OMIM 307030)	XL	Hypoglycemia	Ketoacidosis & extremely ↑ glycerol
GYS2	Hepatic glycogen synthase deficiency (GSD 0) (OMIM 240600)	AR	Fasting hypoglycemia Ketosis	Absence of hepatomegaly Postprandial hyperglycemia & hyperlactatemia
PHKA2 PHKB PHKG2	Liver phosphorylase kinase deficiency (GSD IX)	XL AR	Hepatomegaly Fasting ketosis Hypoglycemia ↑ AST/ALT ↑ lipids	Male predominance AST & ALT commonly more severely ↑ Liver fibrosis
SLC2A2	GLUT2 deficiency (Fanconi-Bickel syndrome; GSD XI) (OMIM 227810)	AR	Hepatomegaly Fasting hypoglycemia Fasting ketosis ↑ AST/ALT	Postprandial hyperglycemia Chronic diarrhea Hypophosphatemic rickets Fanconi nephropathy Significant short stature
SMPD1	Chronic visceral ASMD (Niemann-Pick disease type B) ² (See ASM Deficiency.)	AR	Hepatomegaly Growth failure Hyperlipidemia Bone & pulmonary involvement	No fasting hypoglycemia Significant splenomegaly

Gene

DiffDx Disorder

MOI

Features of DiffDx Disorder

Overlapping w/GSD I

Distinguishing from GSD I

AGL

Debranching enzyme deficiency (GSD III)

Hepatomegaly
Fasting hypoglycemia
↑ AST/ALT
Hyperlipidemia

AST & ALT usually markedly ↑
Muscle involvement w/↑ CK
Normal uric acid, lactate

FBP1

Fructose-1,6-bisphosphatase deficiency ¹

Hepatomegaly
Fasting hypoglycemia
↑ AST/ALT

Fasting hyperlactatemia

GBA1 (GBA)

Gaucher disease ²

Hepatomegaly
Growth failure
Hyperlipidemia
Pulmonary hypertension (rare)
Bone disease / osteoporosis

No fasting hypoglycemia
Significant splenomegaly
Bone infarcts, AVN of femoral head & pulmonary involvement in the form of pulmonary infiltrates

GBE1

Branching enzyme deficiency (See GSD IV.)

Hepatomegaly
↑ AST/ALT

Lack of hypoglycemia until end-stage liver disease
Liver cirrhosis

Glycerol kinase deficiency (OMIM 307030)

Hypoglycemia

Ketoacidosis & extremely ↑ glycerol

GYS2

Hepatic glycogen synthase deficiency (GSD 0) (OMIM 240600)

Fasting hypoglycemia
Ketosis

Absence of hepatomegaly
Postprandial hyperglycemia & hyperlactatemia

PHKA2
PHKB
PHKG2

Liver phosphorylase kinase deficiency (GSD IX)

XL
AR

Hepatomegaly
Fasting ketosis
Hypoglycemia
↑ AST/ALT
↑ lipids

Male predominance
AST & ALT commonly more severely ↑
Liver fibrosis

SLC2A2

GLUT2 deficiency (Fanconi-Bickel syndrome; GSD XI) (OMIM 227810)

Hepatomegaly
Fasting hypoglycemia
Fasting ketosis
↑ AST/ALT

Postprandial hyperglycemia
Chronic diarrhea
Hypophosphatemic rickets
Fanconi nephropathy
Significant short stature

SMPD1

Chronic visceral ASMD (Niemann-Pick disease type B) ² (See ASM Deficiency.)

Hepatomegaly
Growth failure
Hyperlipidemia
Bone & pulmonary involvement

No fasting hypoglycemia
Significant splenomegaly

From: Glycogen Storage Disease Type I

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