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DISORDERS OF CARBOHYDRATE METABOLISM 31 



Amyloidosis 31 



Aspartylglycosaminuria 31 



Fructose-1 ,6-Diphosphatase Deficiency 31 



Fucosidosis 31 



Galactosemia (Kinase Deficiency) 32 



Galactosemia (Transferase Deficiency) 32 

 Glucose-6-Phosphate Dehydrogenase Deficiency and 



Variants 33 



Glycogen Storage Diseases 33 



Type I - Von Gierke Disease 33 



Type II - Pompe Disease 34 



Type III - Debranching Enzyme Deficiency 34 



Type IV - Andersen Disease 34 



Type V - McArdle Disease 34 



Type VI - Hers Disease 34 



Types VIII, IX - Phosphorylase Kinase Deficiency 34 



Hyperpyruvicacidemia 35 



Lactic-pyruvic Acidosis 35 



Mannosidosis 35 



Mucolipidoses 35 



Type II - I-Cell Disease 35 



Type III - Pseudo-Hurler Polydystrophy 36 



Type IV 36 



Mucopolysaccharidoses 36 



Type IH - Hurler Syndrome 36 



Type IH/S - Hurler/Scheie 37 



Type IS - Scheie Syndrome 37 



Type II - Hunter Syndrome 38 



Type IIIA - Sanfilippo Syndrome, A 38 



Type IIIB - Sanfilippo Syndrome, B 39 



Type IV - Morquio Syndrome 39 



Type VI - Maroteaux-Lamy Syndrome 39 



Type VII - Beta-Glucuronidase Deficiency 40 



Winchester Disease 40 



Neuraminidase Deficiency (Acid Sialidase Deficiency) 40 



Phosphoglycerate Kinase Deficiency 40 



DISORDERS OF LIPID METABOLISM 40 



Carnitine Palmitoyl-CoA Transferase Deficiency 40 



Ceroid-lipofuscinosis 40 



Cholesterol Ester Storage Disease of Liver 40 



Fabry Disease (Diffuse Angiokeratoma) 40 



Farber Lipogranulomatosis 41 



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