Liver PhK
deficiency
|
Glycogen storage disease type VI
| AR | Clinical features can be indistinguishable. | In liver PhK deficiency: low liver glycogen phosphorylase activity on in vitro assay 1 |
PYGL
| Glycogen phosphorylase, liver form |
Glycogen storage disease type I (GSD I) | AR |
| In GSD I:
In PhK deficiency: ketosis usually present | G6PC1, SLC37A4 |
|
Glycogen storage disease type III (GSD III) | AR | Hepatomegaly Hyperlipidemia Hypoglycemia & ketosis
| In GSD III: hypoglycemia more severe & muscle involvement w/↑ CK concentrations |
AGL
| Glycogen-debranching enzyme |
Glycogen storage disease type IV (GSD IV) | AR | Hepatomegaly Liver cirrhosis Liver dysfunction
| In GSD IV:
Hypoglycemia & ketosis not typically seen No hypoglycemia in initial stages Accumulation of an abnormal glycogen (amylopectin) in liver & other tissues
|
GBE1
| 1,4-alpha-glucan-branching enzyme |
Fructose-1,6-bisphosphatase deficiency (Note: Other disorders of gluconeogenesis can also be considered. 2) | AR |
| In disorders of gluconeogenesis: hypoglycemia after more prolonged (e.g., overnight) fasting or during intercurrent illness w/↓ carbohydrate intake |
FBP1
| Fructose-1,6-bisphosphatase 1 |
Alpha-1 antitrypsin deficiency 3 | AR |
| In alpha-1-antitrypsin deficiency: lack of fasting hypoglycemia & hyperlacticacidemia |
SERPINA1
| Alpha-1 antitrypsin |
Deoxyguanosine kinase deficiency (mitochondrial DNA depletion syndrome 3) | AR |
| In deoxyguanosine kinase deficiency:
Neurologic abnormalities Lactic acidosis
|
DGUOK
| Mitochondrial respiratory chain complexes (I, III, IV, V) |
Mitochondrial complex V (ATP synthase) deficiency (OMIM 604273) | AR | Hepatomegaly | In mitochondrial complex V deficiency:
|
ATPAF2
| ATP synthase |
Glycerol kinase deficiency (OMIM 307030) | XL | Hypoglycemia | In glycerol kinase deficiency:
|
GK
| Glycerol kinase |
Niemann-Pick disease type B 4 (See Acid Sphingomyelinase Deficiency.) | AR | Growth restriction Hepatomegaly Hyperlipidemia
| In Niemann-Pick disease type B:
Lack of fasting hypoglycemia Significant splenomegaly Storage cells characteristic of disease Other features incl bone & pulmonary involvement
|
SMPD1
| Sphingomyelin phosphodiesterase |
Gaucher disease 4 | AR | Hepatomegaly | In Gaucher disease:
Lack of fasting hypoglycemia Significant splenomegaly Storage cells characteristic of the disease Other features incl bone involvement Early-onset thrombocytopenia
|
GBA
| Glucosylceramidase |
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency 5 (See Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency.) | AR |
| In LCHAD deficiency:
Cardiomyopathy Peripheral neuropathy Retinopathy
|
HADHA
| Trifunctional enzyme subunit alpha, mitochondrial |
Fanconi-Bickel syndrome (OMIM 227810) | AR |
| In Fanconi-Bickel syndrome:
|
SLC2A2
| Solute carrier family 2, facilitated glucose transporter member 2 |
Liver PhK
deficiency &
Muscle PhK
deficiency
|
VLCAD deficiency
| AR | Exercise intolerance Hepatomegaly Hypoglycemia Hypotonia Muscle cramps Muscle pain
| In early-onset form of VLCAD deficiency:
Hypoketosis Cardiomyopathy Pericardial effusion
Disorders distinguished by enzymatic & molecular genetic testing |
ACADVL
| Very long-chain specific acyl-CoA dehydrogenase, mitochondrial |
Muscle PhK
deficiency
| Glycogen storage disease type V (GSD V) 6 | AR | Cramps Exercise intolerance Fatigue Muscle weakness Myalgia Myoglobinuria Poor endurance
| In GSD V: "second-wind" phenomenon |
PYGM
| Glycogen phosphorylase, muscle form |
Glycogen storage disease type VII (GSDVII) 7 (OMIM 232800) | AR | Exercise intolerance Fatigue Muscle cramps
| In GSD VII:
Compensated hemolysis Hyperuricemia
|
PFKM
| ATP-dependent 6-phosphofructokinase, muscle type |
Mitochondrial myopathy | See footnote 8. | Hypoglycemia Muscle weakness Exercise intolerance
| In mitochondrial myopathy:
| See footnote 8. | See footnote 8. |
Myoadenylate deaminase deficiency (OMIM 615511) | AR | Exercise-induced myalgia, rhabdomyolysis, &/or ↑ serum CK | Disorders distinguished by enzymatic & molecular genetic testing |
AMPD1
| AMP deaminase 1 |
Carnitine palmitoyltransferase II deficiency
| AR | ↑ hepatic transaminases Hepatomegaly Hypoglycemia Myalgia Myoglobinuria
| In CPT II deficiency:
Hypoketosis Cardiomyopathy Arrhythmia
|
CPT2
| Carnitine O-palmitoyltransferase 2, mitochondrial |
Phosphoglycerate kinase 1 deficiency (PGK1) (OMIM 300653) | XL |
| In PGK1 deficiency:
Hemolytic anemia Intellectual disability
|
PGK1
| Phosphoglycerate kinase 1 |
Phosphoglycerate mutase deficiency (GSDX) (OMIM 261670) | AR |
| Disorders distinguished by enzymatic & molecular genetic testing |
PGAM2
| Phosphoglycerate mutase 2 |
Lactate dehydrogenase deficiency (GSDXI) (OMIM 612933) | AR | Exercise-induced myalgia Exercise intolerance Fatigue Muscle cramps Rhabdomyolysis
| Disorders distinguished by enzymatic & molecular genetic testing |
LDHA
| L-lactate dehydrogenase A chain |