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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency100+ 
2Glucosephosphate Dehydrogenase Deficiency23+ 
3Dihydropyrimidine Dehydrogenase Deficiency16+ 
4Lipid Metabolism, Inborn Errors15+ 
5Pyruvate Dehydrogenase Complex Deficiency Disease12+ 
6Metabolism, Inborn Errors12+ 
7Disease6+ 
8Amino Acid Metabolism, Inborn Errors4+ 
9Reye Syndrome4+ 
10Deficiency Diseases4+ 
11Muscular Diseases4+ 
12Acidosis, Lactic4+ 
13Favism3+ 
14Hemolysis3+ 
15Mitochondrial Diseases3+ 
16Purine-Pyrimidine Metabolism, Inborn Errors3+ 
17Acidosis3+ 
18Sudden Infant Death3+ 
19Anemia, Hemolytic3+ 
20Brain Diseases, Metabolic, Inborn3+ 
21Hypoglycemia3+ 
22Metabolic Diseases2+ 
23Rhabdomyolysis2+ 
24Leigh Disease2+ 
25Vitamin B 12 Deficiency2+ 
26Mitochondrial Myopathies2+ 
27Brain Diseases, Metabolic2+ 
28Muscle Hypotonia2+ 
29alpha 1-Antitrypsin Deficiency1+ 
30IgA Deficiency1+ 
31Ketosis1+ 
32Seizures1+ 
33Fatty Liver1+ 
34Myoglobinuria1+ 
35Hyperbilirubinemia1+ 
36Adrenal Hyperplasia, Congenital1+ 
37Cardiomyopathies1+ 
38Protein C Deficiency1+ 
39Anemia, Hemolytic, Congenital1+ 
40Kernicterus1+ 
41Mitochondrial Encephalomyopathies1+ 
42Muscle Weakness1+ 
43Disorders of Sex Development1+ 
44Cytochrome-c Oxidase Deficiency1+ 
45Hirsutism1+ 
46Protein S Deficiency1+ 
47Cerebellar Ataxia1+ 
48Jaundice, Neonatal1+ 
49Hepatitis A1+ 
50Peroxisomal Disorders1+ 
51Maple Syrup Urine Disease1+ 
52Factor VII Deficiency1+ 
53Immunologic Deficiency Syndromes1+ 
54Genetic Predisposition to Disease1+ 
55Vitamin A Deficiency1+ 
56Diseases in Twins1+ 
57Anemia, Hemolytic, Congenital Nonspherocytic1+ 
58Pyruvate Metabolism, Inborn Errors1+ 
59Methemoglobinemia1+ 
60IgG Deficiency1+ 
61Developmental Disabilities1+ 
62Psychomotor Disorders1+ 
63Factor XI Deficiency1+ 
64Vitamin D Deficiency1+ 
65Factor X Deficiency1+ 
66Spherocytosis, Hereditary1+ 
67Gangliosidosis, GM11+ 
68Kearns-Sayre Syndrome1+ 
69Spasms, Infantile1+ 
70Folic Acid Deficiency1+ 
71Antithrombin III Deficiency1+ 
72Movement Disorders1+ 

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