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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Pyruvate Metabolism, Inborn Errors100+ 
2Pyruvate Dehydrogenase Complex Deficiency Disease22+ 
3Metabolism, Inborn Errors22+ 
4Pyruvate Carboxylase Deficiency Disease16+ 
5Amino Acid Metabolism, Inborn Errors9+ 
6Carbohydrate Metabolism, Inborn Errors6+ 
7Acidosis5+ 
8Acidosis, Lactic5+ 
9Disease4+ 
10Lipid Metabolism, Inborn Errors4+ 
11Purine-Pyrimidine Metabolism, Inborn Errors3+ 
12Anemia, Hemolytic, Congenital3+ 
13Leigh Disease3+ 
14Metal Metabolism, Inborn Errors3+ 
15Metabolic Diseases3+ 
16Brain Diseases, Metabolic2+ 
17Anemia, Hemolytic, Congenital Nonspherocytic2+ 
18Homocystinuria2+ 
19Refractive Errors2+ 
20Steroid Metabolism, Inborn Errors2+ 
21Anemia, Hemolytic2+ 
22Psychomotor Disorders2+ 
23Mitochondrial Diseases1+ 
24Brain Diseases, Metabolic, Inborn1+ 
25Encephalomalacia1+ 
26Muscle Hypotonia1+ 
27Ornithine Carbamoyltransferase Deficiency Disease1+ 
28Hyperammonemia1+ 
29Citrullinemia1+ 
30Fructose Metabolism, Inborn Errors1+ 
31Cytochrome-c Oxidase Deficiency1+ 
32Hypophosphatasia1+ 
33Lesch-Nyhan Syndrome1+ 
34Fructose Intolerance1+ 
35Hyperargininemia1+ 
36Intellectual Disability1+ 
37Diseases in Twins1+ 
38Syndrome1+ 
39Smith-Lemli-Opitz Syndrome1+ 
40Central Nervous System Diseases1+ 
41Hyperglycinemia, Nonketotic1+ 
42Ketosis1+ 

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