Lactate/Pyruvate ratio [+]

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Associated Diseases	Laboratory Findings	Clinical Symptoms
PYRUVATE DEHYDROGENASE DEFICIENCY (E3) MIM:246900	2-Hydroxybutyric acid 2-Hydroxyisovaleric acid 2-Oxo-n-caproic acid 2-Oxoglutaric acid Ammonia Glucose Isoleucine Lactate Lactate/Pyruvate ratio Leucine MRI brain abnormalities [-] Pyruvate Pyruvic acid Valine	ataxia basal ganglia, changes brain, cortical or paraventricular cysts cardiomyopathy cortical or cerebral atrophy early death failure to thrive growth retardation hyperammonemia hypoglycemia lactic acidosis mental retardation metabolic acidosis microcephaly motor retardation muscle weakness onset, newborn Organic acids, urine seizures stridor tachypnea, hyperpnea, dyspnea, respiratory distress vomiting