Pediatric emergency medicine trisk 2426 2426

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 1 (Tay–Sachs), 2 (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