Hyperlysinemias; Alpha-Aminoadipic Semialdehyde Deficiency Disease; Lysine Alpha-Ketoglutarate Reductase Deficiency Disease; Saccharopine Dehydrogenase Deficiency Disease

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Symptoms:

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	Diseases	Rating	Bibliogr.
1	Hyperlysinemias	100	+ +
2	Mannosidase Deficiency Diseases	40	+ +
3	Amino Acid Metabolism, Inborn Errors	36	+ +
4	Deficiency Diseases	26	+ +
5	Metabolism, Inborn Errors	25	+ +
6	Glucosephosphate Dehydrogenase Deficiency	20	+ +
7	Pyruvate Dehydrogenase Complex Deficiency Disease	19	+ +
8	Multiple Sulfatase Deficiency Disease	19	+ +
9	Phenylketonurias	19	+ +
10	Metabolic Diseases	15	+ +
11	Homocystinuria	14	+ +
12	Dihydropyrimidine Dehydrogenase Deficiency	14	+ +
13	Carbamoyl-Phosphate Synthase I Deficiency Disease	13	+ +
14	Methemoglobinemia	12	+ +
15	Lipid Metabolism, Inborn Errors	10	+ +
16	Acidosis	10	+ +
17	Pyruvate Carboxylase Deficiency Disease	8	+ +
18	Multiple Acyl Coenzyme A Dehydrogenase Deficiency	7	+ +
19	Thiamine Deficiency	7	+ +
20	Seizures, Febrile	6	+ +
21	Brain Diseases, Metabolic	6	+ +
22	Disorders of Sex Development	6	+ +
23	Vitamin B 12 Deficiency	6	+ +
24	Hyperhomocysteinemia	5	+ +
25	Developmental Disabilities	5	+ +
26	Ornithine Carbamoyltransferase Deficiency Disease	5	+ +
27	Disease	5	+ +
28	Renal Aminoacidurias	4	+ +
29	alpha 1-Antitrypsin Deficiency	4	+ +
30	IgA Deficiency	4	+ +
31	Seizures	4	+ +
32	Hirsutism	4	+ +
33	Protein C Deficiency	3	+ +
34	Purine-Pyrimidine Metabolism, Inborn Errors	3	+ +
35	Cyanosis	3	+ +
36	Acidosis, Lactic	3	+ +
37	Hemolysis	3	+ +
38	Favism	3	+ +
39	Protein S Deficiency	3	+ +
40	Muscular Diseases	3	+ +
41	Anemia, Hemolytic	3	+ +
42	Reye Syndrome	3	+ +
43	Brain Diseases, Metabolic, Inborn	3	+ +
44	Factor VII Deficiency	2	+ +
45	Immunologic Deficiency Syndromes	2	+ +
46	Vitamin A Deficiency	2	+ +
47	IgG Deficiency	2	+ +
48	Factor XI Deficiency	2	+ +
49	Intellectual Disability	2	+ +
50	Vitamin K Deficiency	2	+ +
51	Vitamin D Deficiency	2	+ +
52	Mitochondrial Diseases	2	+ +
53	Factor X Deficiency	2	+ +
54	Adrenal Hyperplasia, Congenital	2	+ +
55	Folic Acid Deficiency	2	+ +
56	Antithrombin III Deficiency	2	+ +
57	Factor V Deficiency	2	+ +
58	Hypoglycemia	2	+ +
59	Vitamin B Deficiency	2	+ +
60	Muscle Hypotonia	2	+ +
61	Rhabdomyolysis	2	+ +
62	Factor XIII Deficiency	2	+ +
63	Factor XII Deficiency	2	+ +
64	Sudden Infant Death	2	+ +
65	Smith-Lemli-Opitz Syndrome	2	+ +
66	Herpes Labialis	2	+ +
67	Biotinidase Deficiency	1	+ +
68	Leigh Disease	1	+ +
69	Cytochrome-c Oxidase Deficiency	1	+ +
70	Mitochondrial Myopathies	1	+ +
71	Ketosis	1	+ +
72	Genetic Predisposition to Disease	1	+ +
73	Myoglobinuria	1	+ +
74	Vitamin E Deficiency	1	+ +
75	Anemia, Hemolytic, Congenital	1	+ +
76	Hyperbilirubinemia	1	+ +
77	Dysgammaglobulinemia	1	+ +
78	Fatty Liver	1	+ +
79	Anemia, Iron-Deficiency	1	+ +
80	Growth Disorders	1	+ +
81	Syndrome	1	+ +
82	Fructose-1,6-Diphosphatase Deficiency	1	+ +
83	Malabsorption Syndromes	1	+ +
84	Lecithin Acyltransferase Deficiency	1	+ +
85	Protein Deficiency	1	+ +
86	Anemia, Hemolytic, Congenital Nonspherocytic	1	+ +
87	Leukocyte-Adhesion Deficiency Syndrome	1	+ +
88	Vitamin B 6 Deficiency	1	+ +
89	Jaundice, Neonatal	1	+ +
90	Nervous System Diseases	1	+ +
91	Kernicterus	1	+ +
92	Carbohydrate Metabolism, Inborn Errors	1	+ +
93	Peroxisomal Disorders	1	+ +
94	Thrombophilia	1	+ +
95	Diseases in Twins	1	+ +
96	Psychomotor Disorders	1	+ +
97	Pyruvate Metabolism, Inborn Errors	1	+ +
98	Cardiomyopathies	1	+ +
99	Gynecomastia	1	+ +
100	Spherocytosis, Hereditary	1	+ +
101	Hepatitis A	1	+ +
102	Osteogenesis Imperfecta	1	+ +
103	Ascorbic Acid Deficiency	1	+ +
104	Maple Syrup Urine Disease	1	+ +
105	Infant, Newborn, Diseases	1	+ +
106	Muscle Weakness	1	+ +
107	Dwarfism, Pituitary	1	+ +
108	Hepatomegaly	1	+ +
109	Movement Disorders	1	+ +
110	Brain Diseases	1	+ +
111	Recurrence	1	+ +

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