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diagnosis pediatrics iem inbornerrors management neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd aflp algorithm alkaline alp anorexianervosa complications differential encephalopathy endocrinology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... free fatty acid metabolism ... Intermediate fatty acid metabolism ... postpartum): • Initial symptoms ... Liver #Pregnancy #hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Low Alkaline Phosphatase - Hypophosphatasia Is Low Alkaline Phosphatase Of Clinical Importance? ALP enzyme- Discovered in 1923 Low
collection with EDTA Pathophysiology ... mineralization Symptoms ... respiratory failure • Neurologic ... Nephrolithiasis • Metabolic ... Hyophosphatasia #hepatology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Neurological symptoms ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
Anorexia Nervosa: Complications CARDIAC ABNORMALITIES - Functional: Low BP, Sinus bradycardia, prolonged QT interval - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... Cerebral Atrophy and Metabolic ... Complications #pathophysiology ... diagnosis #signs #symptoms
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