Carbohydrate Metabolic Disorders

Description  OMIM Number 
ASPARTYLGLUCOSAMINURIA 208400
BIOTINIDASE; BTD MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET, INCLUDED 253260
DISACCHARIDE INTOLERANCE I 222900
FRUCTOSE-1,6-BISPHOPHATASE 1; FBP1 229700
FUCOSIDOSIS 230000
GALACTOKINASE DEFICIENCY 230200
GALACTOSEMIA 230400
GLYCOGEN STORAGE DISEASE I 232200
GLYCOGEN STORAGE DISEASE Ib 232220
GLYCOGEN STORAGE DISEASE II 232300
GLYCOGEN STORAGE DISEASE III 232400
GLYCOGEN STORAGE DISEASE IV 232500
GLYCOGEN STORAGE DISEASE V 232600
GLYCOGEN STORAGE DISEASE VI 232700
GLYCOGEN STORAGE DISEASE VII 232800
GLYCOGEN STORAGE DISEASE VIII (GLYCOGEN STORAGE DISEASE IX, INCLUDED) 306000
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 253270
HURLER SYNDROME 607014
HURLER-SCHEIE SYNDROME 607015
HYALURONIDASE DEFICIENCY 601492
LACTIC ACIDOSIS, CONGENITAL INFANTILE 245400
LEIGH SYNDROME 256000
MANNOSIDOSIS ALPHA B LYSOSOMAL 248500
MEDITERRANEAN FEVER, FAMILIAL; MEFV 249100
MUCOLIPIDOSIS II; ML2; ML II 252500
MUCOLIPIDOSIS III 252600
MUCOLIPIDOSIS III COMPLEMENTATION GROUP C 252605
MUCOLIPIDOSIS IV 252650
MUCOPOLYSACCHARIDOSIS TYPE II 309900
MUCOPOLYSACCHARIDOSIS TYPE IIIA 252900
MUCOPOLYSACCHARIDOSIS TYPE IIIB 252920
MUCOPOLYSACCHARIDOSIS TYPE IIIC 252930
MUCOPOLYSACCHARIDOSIS TYPE IIID 252940
MUCOPOLYSACCHARIDOSIS TYPE IVA 253000
MUCOPOLYSACCHARIDOSIS TYPE IVB 253010
MUCOPOLYSACCHARIDOSIS TYPE VI 253200
MUCOPOLYSACCHARIDOSIS TYPE VII 253220
NEURAMINIDASE DEFICIENCY 256550
NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY 256540
OXALOSIS I 259900
OXALOSIS II 260000
PHOSPHOGLYCERATE KINASE 1; PGK1 311800
PYRUVATE CARBOXYLASE DEFICIENCY 266150
PYRUVATE DECARBOXYLASE DEFICIENCY 312170
SALLA DISEASE 604369
SCHEIE SYNDROME 607016
SIALIC ACID STORAGE DISEASE; SIASD 269920
TRANSTHYRETIN; TTR 176300
TRICARBOXYLIC ACID CYCLE, DEFECT OF 275370
WERNICKE-KORSAKOFF SYNDROME 277730