| ASPHYXIA [DD] | |
| NEONATAL HYPOXIC ISCHEMIC ENCEPHALOPATHY (HIE) | |
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OMIM = Online Mendelian Inheritance of Men | |
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| the effects of birth asphyxia on the urinary organic acid profile of term newborns with birth asphyxia was investigated: significant abnormalities were found for the severely asphyxiated newborns | |
| Laboratory findings | 2-Hydroxybutyric acid inc (urine) 2-Hydroxyisovaleric acid inc (urine) 2-Oxoisocaproic acid inc (urine) 3-Hydroxybutyric acid inc (urine) 3-Methyl-2-oxovaleric acid inc (urine) 4-Hydroxyphenyllactic acid inc (urine) Arginine normal/dec (blood) Calcium dec (serum) Creatine kinase inc (serum) D-Glucose dec (blood) Erythropoietin inc (amniotic fluid) Homogentisic acid inc (urine) Hypoxanthine inc (urine) Insulin inc (plasma) L-Carnitine dec (serum) L-Histidine normal/dec (blood) L-Lactic acid inc (blood) L-Lactic acid inc (urine) Lactate dehydrogenase (LDH) inc (serum) Lactate/Creatinine ratio inc (urine) Malondialdehyde inc (blood) Methionine normal/inc (blood) Myoglobin inc (urine) Neuron Specific Enolase (NSE) inc (serum) Ornithine normal/dec (blood) pH dec (blood) S100B protein inc (amniotic fluid) S100B protein inc (urine) Sodium dec (serum) Uric acid inc (urine) Uric acid/creatinine inc (urine) Vanillylmandelic acid (VMA) inc (urine) |
| Symptoms | hypoglycemia lactic acidosis adrenal insufficiency bleeding tendencies, hemorrhages coma EEG abnormalities [-] encephalopathy hyperinsulinism hypertonia, spasticity hypotonia metabolic acidosis MRI, brain, abnormalities [-] onset, fetus onset, neonatal renal failure, acute/chronic respiratory distress seizures ultrasound, cranial, abnormalities |