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The National Information Centre for Metabolic Diseases

 

 

 

 

 

 

 

 

Metabolic Diseases

 

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Disease

  

Also Known As
Galactokinase Deficiency GALK
Galactosaemia GALT
Galactosialidosis Goldberg Syndrome 
Gardener's Syndrome Oldfield Syndrome
Gaucher Disease Type 1       Glucocerebrosidase Deficiency 
Gaucher Disease Type 2       Glucocerebrosidase Deficiency 
Gaucher Disease Type 3 Subacute Neuronopathic Gaucher Disease
Geleophysic Dysplasia Focal Mucopolysaccharidosis
Gilbert Syndrome Familial Jaundice 
Gitelman Syndrome

Familial Hypokalaemia-Hypomagnesemia
Glanzmann Thrombasthenia Glanzmann Disease
Glucose 6-Phosphate Dehydrogenase Deficiency G6PD
Glucose 6-Phosphate Isomerase Deficiency Phosphoglucoisomerase Deficiency
Glucose Galactose Malabsorption Monosaccharide Malabsorption
Glucose Transporter Type 1 Deficiency GLUT 1
Glutamate Formiminotransferase Deficiency     
Glutamyl - Cysteine Synthetase Deficiency (Gamma)  
Glutamyl - Transpeptidase Deficiency (Gamma) Glutathionuria
Glutaric Aciduria Type I       GA I
Glutaryl-CoA Oxidase Deficiency Glutaric Aciduria Type III
Glutathione Peroxidase Deficiency GPX Deficiency
Glutathione Reductase Deficiency GSR Deficiency
Glutathione Synthetase Deficiency – Generalised GS Deficiency
Glycerol Kinase Deficiency Hyperglycerolaemia
Glycine N-methyltransferase Deficiency GNMT
Glycogen Storage Disease – General         GSD
Glycogen Storage Disease Type I     Von Gierke Disease
Glycogen Storage Disease Type II Pompes Disease

Glycogen Storage Disease Type III   

Forbes Disease

Glycogen Storage Disease Type IV  

Andersen Disease

Glycogen Storage Disease Type V    

McArdle Disease

Glycogen Storage Disease Type VI   

Hers Disease

Glycogen Storage Disease Type VII  

Tarui Disease

Glycogen Storage Disease Type VIII   

Hepatic Phosphorylase Kinase Deficiency

Glycogen Storage Disease Type IX     

Glycogenosis IX 

Glycogen Synthase Deficiency

Glycogen Storage Disease Type O 

GM1 Gangliosidosis Type I - Infantile

Landing Disease 

GM1 Gangliosidosis Type II - Juvenile

 

GM1 Gangliosidosis Type III - Adult

 
GM2 Gangliosidosis Type II

Sandhoff Disease

Goldenhar Syndrome

Oculo-Auriculo-Vertebral Spectrum

Graves Disease

Parry Disease 

Griscelli Syndrome

Chediak-Higashi Like Syndrome

Growth Hormone Deficiency

GHD 

GTP Cyclohydrolase I Deficiency

 Hyperphenylalaninaemia with Neopterin Deficiency

Guanidinoacetate Methyltransferase Deficiency

GAMT