S.No. Ailment Name Metabolism Cycle Enzyme Action
1 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Inositol Phosphate Metabolism 1-phosphatidyl 1D-myo-inositol 3P?..1-phosphatidyl 1D-myo-inositol 1-3,5P2 Phosphoinositide kinase, FYVE finger containing (2.7.1.150) 2q34 View
2 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Pentose and glucuronate interconversions ?-D-Glucuronoside?..D-Glucuronate Glucuronidase, beta (EC:3.2.1.31) 7q21.11 View
3 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate TCA Isocitrate??? oxalosuccinate Isocitrate Dehydrogenase (1.1.1.42,1.1.1.41) 2q33.3 View
4 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Steroid Hormone Biosynthesis cytochrome P450, family 11, subfamily B, polypeptide 2 (EC:1.14.15.4 1.14.15.5) View
5 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Steroid Hormone Biosynthesis CYP11B2 View
6 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Pantothenate and CoA Biosynthesis Metabolism N-Pantothenoylcysteine... (R)-4'-Phosphopantothenoyl-L-cysteine Pantothenate kinase 1 (2.7.1.33) 10q23.31 View
7 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 B6 METABOLISM Pyridoxine phosphate??...Pyridoxal 5-phosphate Pyridoxamine 5'-phosphate oxidase (1.4.3.5) 17q21.32 View
S.No Ailment Name Metabolism Cycle Metabolite Action
1 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Butanoate Metabolism 4- Hydroxybutanoate View
2 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Fructose and Mannose Degradation D - Sorbitol View
3 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Galactose Metabolism Glucose View
4 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Glycolysis Metabolism Glucose View
5 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Pyruvate Metabolism Acetyl Co-A View
6 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) carbohydrate Pyruvate Metabolism Succinate View
7 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Primary and Secondry Bile Acid Biosynthesis Choles-5-ene-3?-26-diol (Oxysterol) View
8 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Glycero2 and Glycerophospho2 Metabolism Glycerate 3 phasphate View
9 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Glycero2 and Glycerophospho2 Metabolism View
10 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Glycero2 and Glycerophospho2 Metabolism Propionyl-CoA View
11 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Glycero2 and Glycerophospho2 Metabolism Propanal View
12 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Glycero2 and Glycerophospho2 Metabolism 1- Propanol View
13 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Synthesis and degradation of ketone bodies Acetyl Co-A View
14 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Sphingo2 Metabolism L-Serine View
15 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) lipid Steroid Hormone Biosynthesis 5?-Pregnane-3,20-dione View
16 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) nucleotide Adenine Metabolism Uric acid View
17 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) nucleotide Adenine Metabolism Carbamoyl phosphate View
18 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) nucleotide Guanine Metabolism (S)-2-[5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido]succinate (SAICAR) View
19 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) nucleotide Thymine Metabolism Thymidine View
20 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) nucleotide Uracil Metabolism Ureidopropionic acid View
21 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Alanine,Aspartate And Glutamate Metabolism L-Argino succinate View
22 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Alanine,Aspartate And Glutamate Metabolism L-Glutamate View
23 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Alanine,Aspartate And Glutamate Metabolism 4-Aminobutanoate View
24 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Alanine,Aspartate And Glutamate Metabolism Succinate semialdehyde View
25 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Arginine and Proline Metabolism Glutamine View
26 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Arginine and Proline Metabolism L-Argino succinate View
27 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Arginine and Proline Metabolism Arginine View
28 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Arginine and Proline Metabolism Glyoxylate View
29 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Cystein and Methionine Metabolism L-Serine View
30 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Cystein and Methionine Metabolism L-Cystathionine View
31 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Glycine, Serine And Threonine Metabolism L-Serine View
32 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Glycine, Serine And Threonine Metabolism Cystathionine View
33 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Glycine, Serine And Threonine Metabolism L-Tryptophane View
34 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Glycine, Serine And Threonine Metabolism Glycine View
35 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Histidine Metabolite Carnosine View
36 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Phenylalanine,Tyrosine and Trytophan Biosynthesis Tyrosine View
37 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine, leucine and isoleucine biosynthesis L- Valine View
38 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine, leucine and isoleucine biosynthesis L- Leucine View
39 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine, leucine and isoleucine biosynthesis L- Isoleucine View
40 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine,Leucine and Isoleucine Degradation L- Isoleucine View
41 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine,Leucine and Isoleucine Degradation L- Valine View
42 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine,Leucine and Isoleucine Degradation L- Leucine View
43 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) protein Valine,Leucine and Isoleucine Degradation Acetyl Co-A View
44 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Nicotinate and nicotinamide metabolism Quinolinate View
45 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Nicotinate and nicotinamide metabolism Quinolinate View
46 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Pantothenate and CoA biosynthesis L- Valine View
47 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Pantothenate and CoA biosynthesis 3- methyl-2- oxobutanoate View
48 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 A Metabolism Betacarotene View
49 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Thiamine Metabolism Pyridoxal Phasphate View
50 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Thiamine Metabolism Thiamine Phasphate View
51 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Thiamine Metabolism Thiamine View
52 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Thiamine Metabolism Glycine View
53 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin Thiamine Metabolism Tyrosine View
54 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 D Metabolism Cholecalciferol (5 D3) View
55 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 D Metabolism Cholecalciferol (5 D3) View
56 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 D Metabolism Cholecalciferol (5 D3) View
57 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 D Metabolism VDR View
58 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 B6 Metabolism Pyridoxine View
59 Acetyl-CoA-acetyltransferase deficiency (3-Ketothiolase deficiency) vitamin 5 B6 Metabolism Pyridoxine View