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Disorders of carbohydrate metabolism Carbohydrate intolerance disorders Galactosemia Galactokinase deficiency Hereditary fructose intolerance Fructosuria Fructose-1,6-diphosphatase deficiency Carbohydrate production/utilization disorders Glycogen storage disorder types 0, Ia (von Gierke), Ib/c, Ic, II (Pompe), IIb, III (Cori or Forbes), IV (Anderson), V (McArdle), VI (Hers), VII (Tarui), VIII, IX, X, XI Lysosomal storage disorders Mucopolysaccharidosis (MPS) MPS IH (Hurler), IH/S (Hurler–Scheie), IS (Scheie), MSII (Hunter), IIIA–D (Sanfilippo), IVA, B (Morquio), VI (Maroteaux–Lamy), VII (Sly) Sphingolipidoses Canavan disease Fabry disease Farber disease Gaucher disease types I–III GM1 gangliosidosis types 1–3 GM2 gangliosidosis types (Tay–Sachs), (Sandhoff) GM3 gangliosidosis Krabbe disease Metachromatic leukodystrophy—infantile, juvenile, adult Multiple sulfatase deficiency Niemann–Pick disease—types IS, IC, IIA, IIS, IIC Oligosaccharidoses (glycoproteinoses) Aspartylglucosaminuria Fucosidosis types I, II Galactosialidosis Mannosidosis α types I, II, β Pycnodysostosis (Maroteaux–Lamy III) Schindler disease Sialidosis types I, II (previously mucolipidosis I) Sialolipidosis Mucolipidosis Mucolipidosis types II (I-cell), III (pseudo-Hurler), IV Mitochondrial disorders 2-Ketoglutarate dehydrogenase complex deficiency Friedreich ataxia Fumarase deficiency Glutaric acidemia type II Kearns–Sayre syndrome Leigh disease Mitochondrial encephalomyopathy lactic acidosis stroke-like episodes Myoclonic epilepsy, ragged red fiber disease Pearson syndrome

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