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Pyruvate Dehydrogenase E3-Binding Protein Deficiency
mutation in PDHX
Also Known As:
Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex
Networked:
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relevant articles (
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Disease Context: Research Results
Nutritional and Metabolic Diseases: 15
Metabolic Diseases: 10142
Mitochondrial Diseases: 21919
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Inborn Errors Metabolism: 1162
Inborn Metabolic Brain Diseases: 2
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Inborn Errors Carbohydrate Metabolism
Inborn Errors Pyruvate Metabolism
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Acid-Base Imbalance: 249
Acidosis: 17197
Lactic Acidosis: 3887
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Metabolic Brain Diseases: 215
Inborn Metabolic Brain Diseases: 2
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Nervous System Diseases: 14178
Neurologic Manifestations: 7102
Neurobehavioral Manifestations: 1586
Intellectual Disability: 8035
X-Linked Mental Retardation: 272
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Central Nervous System Diseases: 4213
Brain Diseases: 15694
Metabolic Brain Diseases: 215
Inborn Metabolic Brain Diseases: 2
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Inborn Errors Metabolism: 1162
Inborn Metabolic Brain Diseases: 2
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Inborn Errors Carbohydrate Metabolism
Inborn Errors Pyruvate Metabolism
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Nervous System Heredodegenerative Disorders: 63
X-Linked Mental Retardation: 272
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
X-Linked Genetic Diseases: 42
X-Linked Mental Retardation: 272
Pyruvate Dehydrogenase Complex Deficiency Disease: 236
Pyruvate Dehydrogenase E3-Binding Protein Deficiency