3-Hydroxyacyl-CoA dehydrogenase [+]

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Associated Diseases	Laboratory Findings	Clinical Symptoms
LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD) MIM:143450	3-Hydroxyacyl-CoA dehydrogenase 3-Hydroxyadipic acid 3-Hydroxybutyric acid 3-Hydroxyoleoylcarnitine (C18:1-OH) 3-Hydroxypalmitoylcarnitine (C16-OH) 3-Hydroxysebacic acid 3-Hydroxystearoylcarnitine (C18-OH) 3-Hydroxysuberic acid Ammonia Carnitine Creatinine kinase Dicarboxylic acids urine Glucose Lactate Long chain acyl carnitines Long-chain 3-hydroxyacyl-CoA dehydrogenase Myoglobin Oleoylcarnitine (C18:1) pH Transaminases	blindness, visual loss, visual impairment brown colored urine cardiac arrhythmia, dysrhythmia cardiomyopathy coma diarrhea early death encephalopathy failure to thrive feeding difficulties, poor feeding HELLP syndrome hyperammonemia hypoglycemia hypotonia lactic acidosis large liver lethargy, drowsiness, malaise or sleep disorder liver failure liver involvement (acute, chronic, hepatitis) maternal acute fatty liver of pregnancy metabolic acidosis microcephaly motor retardation myopathy neurological deterioration onset, child onset, infant onset, newborn Organic acids, plasma Organic acids, urine pericardial effusion peripheral neuropathy preeclampsia, maternal retinitis pigmentosa retinopathy rhabdomyolysis seizures speech development, delayed, abnormal vomiting