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G1
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G2
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Pathway: Glycolysis
Gene: phosphoglucomutase
Pathway: Phenylalanine metabolism
Gene: 4-hydroxyphenylpyruvate
Trait: Glycogen storage diseases
1 of 3
Trait: Tyrosinemia
1 of 3
Trait: D-2-hydroxyglutaric aciduria
1 of 3
Pathway: Phenylalanine metabolism
Gene: tyrosine aminotransferase
Pathway: Krebs Cycle
Gene: isocitrate dehydrogenase
Trait: Tyrosinemia
2 of 3
Trait: D-2-hydroxyglutaric aciduria
2 of 3
Pathway: Glycolysis
Gene: 6-phosphofructokinase 1
Pathway: Phenylalanine metabolism
Gene: phenylalanine-4-hydroxylase
Pathway: Krebs Cycle
Gene: isocitrate dehydrogenase (NAD+)
Trait: Glycogen storage diseases
3 of 3
Trait: PKU
3 of 3
Trait: Retinitis pigmentosa
3 of 3
Pathway: Glycolysis
Gene: fructose-bisphosphate
Pathway: Krebs Cycle
Gene: 2-oxoglutarate
aldolase, class I
dehydrogenase E1 component
Pathway: Pyrimidine metabolism
Gene: apyrase
Trait: Hereditary fructose intolerance
1 of 3
Trait: Diseases of the tricarboxylic acid cycle
1 of 3
Trait: Premature ovarian failure
1 of 3
Pathway: Glycolysis
Gene: glyceraldehyde-3phosphate dehydrogenase
Pathway: Krebs Cycle
Gene: dihydrolipoamide
Pathway: Pyrimidine metabolism
Gene: dihydropyrimidine
Trait: Unknown…
2 of 3
Trait: Maple syrup urine disease (MSUD)
2 of 3
Trait: Dihydropyrimidine dehydrogenase
Pathway: Glycolysis
Gene: 2,3-bisphosphoglycerate-dependent
Pathway: Krebs Cycle
Gene: dihydrolipoamide
phosphoglycerate mutase
dehydrogenase
Pathway: Pyrimidine metabolism
Gene: dihydropyrimidinase
Trait: Glycogen storage diseases
3 of 3
Trait: Pyruvate dehydrogenase complex deficiency
3 of 3
Pathway: Glycolysis
Gene: glucose-6-phosphate
isomerase
Trait: Anemia due to disorders of
glycolytic enzymes
2 of 3
dioxygenase
dehydrogenase
Pathway: Krebs Cycle
Gene: isocitrate dehydrogenase
dehydrogenase (NADP+)
deficiency
2 of 3
Trait: Dihydropyrimidinase deficiency
3 of 3
Pathway: Glycolysis
Gene: enolase
Pathway: Krebs Cycle
Gene: succinyl-CoA synthetase alpha
subunit
Pathway: Purine metabolism
Gene: hypoxanthine
phosphoribosyltransferase 1
Trait: Glycogen storage diseases
1 of 3
Trait: Mitochondrial DNA depletion syndrome
1 of 3
Trait: Lesch-Nyhan Syndrome
1 of 3
Pathway: Glycolysis
Gene: pyruvate kinase
Pathway: Krebs Cycle
Gene: succinate dehydrogenase
Pathway: Purine metabolism
Gene: purine-nucleoside
(MDS)
(ubiquinone) flavoprotein subunit
Trait: Pyruvate kinase (PK)
phosphorylase
Trait: Combined immunodeficiencies
2 of 3
Trait: Dilated cardiomyopathy (DCM)
2 of 3
Pathway: Glycolysis
Gene: pyruvate dehydrogenase E1
Pathway: Krebs Cycle
Gene: succinate dehydrogenase
component
(ubiquinone) flavoprotein subunit
Pathway: Purine metabolism
Gene: 5'-nucleotidase
Trait: Pyruvate dehydrogenase
Trait: Mitochondrial respiratory chain
deficiency
complex deficiency
deficiencies (MRCD)
3 of 3
3 of 3
Pathway: Oxidative Phosphorylation
Gene: NADH dehydrogenase (ubiquinone)
Pathway: Fatty acid metabolism
Gene: acetyl-CoA C-acetyltransferase
Fe-S protein 2
Trait: Mitochondrial respiratory chain deficiencies
Trait: Alpha-methylacetoacetic
(MRCD)
aciduria
1 of 3
1 of 3
Pathway: Oxidative Phosphorylation
Gene: ubiquinol-cytochrome c reductase
Pathway: Fatty acid metabolism
Gene: enoyl-CoA hydratase / long-
subunit 7
chain 3-hydroxyacyl-CoA dehydrogenase
Trait: Mitochondrial respiratory chain deficiencies
Trait: Mitochondrial respiratory chain
(MRCD)
deficiencies (MRCD)
2 of 3
2 of 3
Pathway: Oxidative Phosphorylation
Gene: NADH-ubiquinone
Pathway: Fatty acid metabolism
Gene: acyl-CoA oxidase
oxidoreductase chain 1
Trait: Leber optic atrophy
3 of 3
Trait: Peroxisomal beta-oxidation
enzyme deficiency
3 of 3
(CIDs)
2 of 3
Trait: Calcification of joints and
arteries
3 of 3