| Disorders |
Enzyme deficiency |
Clinical features |
Gene/locus
Chromosome |
|
| GSDIa/
Von Gierke |
Glucose-6-phosphatase |
Severe hypoglycaemia, Hepatomegaly,
elevated lactate, lipids |
G6PC gene
17q21 |
[42] |
| GSD Ib |
Glucose-6-phosphate translocase |
Same as GSD Ia with neutropenia and
impaired neutrophil function |
SLC37A4
11q23.3 |
[43] |
| GSD IIIa/Cori |
Amylo,1,6 glucosidase
(Liver and muscle) |
Hepatomegaly, muscle weakness,
hypoglycaemia, hyperlipidaemia |
AGL
1p21.2 |
[44] |
| GSD IIIb |
Amylo,1,6 glucosidase
(Liver only) |
Hepatomegaly, hypoglycaemia,
hyperlipidaemia |
AGL
1p21.2 |
[44] |
| GSDVI/Hers disease |
Liver phosphorylase |
Hepatomegaly and mild to moderate hypoglycaemia |
PYGL
14q22.1 |
[46] |
| GSD IXb |
Phosphorylase kinase
(Liver and muscle) |
Hepatomegaly and mild hypoglycaemia
on prolonged fasting |
PHKB
16q12.1 |
[48,49] |
| GSD IXc |
Phosphorylase kinase deficiency, Liver/Testis |
Hepatomegaly, recurrent hypoglycaemia,
Liver cirrhosis |
PHKG2
16p11.2 |
[48,49] |
| GSD 0 |
Glycogen synthetase deficiency |
Hypoglycaemia and hyperketonaemia |
GYS2
12p12.1 |
[51] |
