1. Do the Pathway Shuffle! M G1G1 G2G2 S Start here Induce! Revert! Horizontal Transfer Induce! Pick Copyright 2014 by Michael V. Osier. All rights reserved. Revert! Recombine! Induce! Revert!

2. Pathway: Glycolysis Gene: phosphoglucomutase Trait: Glycogen storage diseases 1 of 3 Pathway: Glycolysis Gene: glucose-6-phosphate isomerase Trait: Anemia due to disorders of glycolytic enzymes 2 of 3 Pathway: Glycolysis Gene: 6-phosphofructokinase 1 Trait: Glycogen storage diseases 3 of 3 Pathway: Phenylalanine metabolism Gene: 4-hydroxyphenylpyruvate dioxygenase Trait: Tyrosinemia 1 of 3 Pathway: Phenylalanine metabolism Gene: tyrosine aminotransferase Trait: Tyrosinemia 2 of 3 Pathway: Phenylalanine metabolism Gene: phenylalanine-4-hydroxylase Trait: PKU 3 of 3 Pathway: Glycolysis Gene: fructose-bisphosphate aldolase, class I Trait: Hereditary fructose intolerance 1 of 3 Pathway: Glycolysis Gene: glyceraldehyde-3- phosphate dehydrogenase Trait: Unknown… 2 of 3 Pathway: Glycolysis Gene: 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase Trait: Glycogen storage diseases 3 of 3 Pathway: Krebs Cycle Gene: isocitrate dehydrogenase Trait: D-2-hydroxyglutaric aciduria 1 of 3 Pathway: Krebs Cycle Gene: isocitrate dehydrogenase Trait: D-2-hydroxyglutaric aciduria 2 of 3 Pathway: Krebs Cycle Gene: isocitrate dehydrogenase (NAD+) Trait: Retinitis pigmentosa 3 of 3 Pathway: Krebs Cycle Gene: 2-oxoglutarate dehydrogenase E1 component Trait: Diseases of the tricarboxylic acid cycle 1 of 3 Pathway: Krebs Cycle Gene: dihydrolipoamide dehydrogenase Trait: Maple syrup urine disease (MSUD) 2 of 3 Pathway: Krebs Cycle Gene: dihydrolipoamide dehydrogenase Trait: Pyruvate dehydrogenase complex deficiency 3 of 3 Pathway: Pyrimidine metabolism Gene: apyrase Trait: Premature ovarian failure 1 of 3 Pathway: Pyrimidine metabolism Gene: dihydropyrimidine dehydrogenase (NADP+) Trait: Dihydropyrimidine dehydrogenase deficiency 2 of 3 Pathway: Pyrimidine metabolism Gene: dihydropyrimidinase Trait: Dihydropyrimidinase deficiency 3 of 3

3. Pathway: Glycolysis Gene: enolase Trait: Glycogen storage diseases 1 of 3 Pathway: Glycolysis Gene: pyruvate kinase Trait: Pyruvate kinase (PK) deficiency 2 of 3 Pathway: Glycolysis Gene: pyruvate dehydrogenase E1 component Trait: Pyruvate dehydrogenase complex deficiency 3 of 3 Pathway: Krebs Cycle Gene: succinyl-CoA synthetase alpha subunit Trait: Mitochondrial DNA depletion syndrome (MDS) 1 of 3 Pathway: Krebs Cycle Gene: succinate dehydrogenase (ubiquinone) flavoprotein subunit Trait: Dilated cardiomyopathy (DCM) 2 of 3 Pathway: Krebs Cycle Gene: succinate dehydrogenase (ubiquinone) flavoprotein subunit Trait: Mitochondrial respiratory chain deficiencies (MRCD) 3 of 3 Pathway: Purine metabolism Gene: hypoxanthine phosphoribosyltransferase 1 Trait: Lesch-Nyhan Syndrome 1 of 3 Pathway: Purine metabolism Gene: purine-nucleoside phosphorylase Trait: Combined immunodeficiencies (CIDs) 2 of 3 Pathway: Purine metabolism Gene: 5'-nucleotidase Trait: Calcification of joints and arteries 3 of 3 Pathway: Oxidative Phosphorylation Gene: NADH dehydrogenase (ubiquinone) Fe-S protein 2 Trait: Mitochondrial respiratory chain deficiencies (MRCD) 1 of 3 Pathway: Oxidative Phosphorylation Gene: ubiquinol-cytochrome c reductase subunit 7 Trait: Mitochondrial respiratory chain deficiencies (MRCD) 2 of 3 Pathway: Oxidative Phosphorylation Gene: NADH-ubiquinone oxidoreductase chain 1 Trait: Leber optic atrophy 3 of 3 Pathway: Fatty acid metabolism Gene: acetyl-CoA C-acetyltransferase Trait: Alpha-methylacetoacetic aciduria 1 of 3 Pathway: Fatty acid metabolism Gene: enoyl-CoA hydratase / long- chain 3-hydroxyacyl-CoA dehydrogenase Trait: Mitochondrial respiratory chain deficiencies (MRCD) 2 of 3 Pathway: Fatty acid metabolism Gene: acyl-CoA oxidase Trait: Peroxisomal beta-oxidation enzyme deficiency 3 of 3