2-Oxoisovaleric acid [+]

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Associated Diseases	Laboratory Findings	Clinical Symptoms
MAPLE SYRUP URINE DISEASE MIM:248600	2-Hydroxy-3-methylvaleric acid 2-Hydroxyisocaproic acid 2-Hydroxyisovaleric acid 2-Oxo-3-methylvaleric acid 2-Oxoisocaproic acid 2-Oxoisovaleric acid 3-Hydroxybutyric acid allo-Isoleucine BCKAD complex EEG abnormalities [-] Ferric chloride reaction Glucose Isoleucine Ketone bodies Leucine MRI brain white matter abnormalities [-] pH Valine	ataxia behavior, autism or autistic-like coma early death encephalopathy feeding difficulties, poor feeding hypoglycemia ketosis lethargy, drowsiness, malaise or sleep disorder maple sirup or caramel odor mental retardation metabolic acidosis onset, newborn ophthalmoplegia pancreatitis seizures shrill cry vomiting