Abnormal urine alpha-ketoglutarate concentration
|
disease |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.600 |
limited |
1.000 |
1 |
|
2016 |
2016 |
Abnormal salivary gland morphology
|
phenotype |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of Krebs cycle metabolism
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital lactic acidosis
|
disease |
Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
12
|
5
|
0.100 |
None |
|
0 |
|
|
|
Pyruvate Carboxylase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
33
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Death in childhood
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hyperphenylalaninaemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
38
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle Hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
197
|
21
|
0.100 |
None |
|
0 |
|
|
|
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.020 |
None |
0.500 |
2 |
|
1994 |
1998 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
|
0 |
|
|
|
Hepatitis, Toxic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Injury or Poisoning
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chemically-Induced Liver Toxicity
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
412
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Drug-Induced Acute Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
413
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hepatitis, Drug-Induced
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
418
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Primary biliary cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
478
|
667
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2000 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Drug-Induced Liver Disease
|
phenotype |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
537
|
29
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |