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pedia - JIA

med22

QuestionAnswer
What is the definition of an Inborn Error of Metabolism (IEM)? It is a defect resulting from the absence or abnormality of an enzyme, its cofactor, or biochemical transporters, leading to accumulation or deficiency of a specific metabolite.
What are the three main metabolic areas involved in inborn defects? Handling of amino acids, lipids, and carbohydrates, in addition to organelle disorders (mitochondria, lysosome, peroxisome).
What is the most common mode of inheritance for Inborn Errors of Metabolism (IEMs)? Autosomal recessive.
What is the consequence of an enzyme defect in the pathophysiology of IEMs? Perturbations of cellular chemistry due to reduction in an essential product, buildup of a toxic intermediate, or production of a toxic side product.
What three organs are frequently injured by toxic accumulation of metabolites in IEMs? Brain, liver, and eyes.
IEM disorders resulting from energy deficiency (e.g., fatty acid oxidation disorders) may present with which neurological symptoms? Central nervous system dysfunction, including intellectual disability and seizures.
What general symptoms in neonates should raise suspicion for a metabolic disorder? Lethargy, poor tone, poor feeding, hypothermia, irritability, or seizures.
What is the purpose of neonatal screening for IEMs? The early detection and rapid treatment of disorders before the onset of symptoms to prevent morbidity and mortality.
What technology is used in newborn screening for multiple IEM disorders in dried blood spots? Tandem mass spectrometry.
List one treatment principle aimed at correcting the deficient Product in IEMs. Product supplementation.
List three treatment principles aimed at reducing the toxic Substrate accumulation in IEMs. Dietary restriction, toxin removal, and substrate reduction.
What is the underlying enzyme defect in Classic Galactosemia? Absence of the enzyme galactose 1-phosphate uridyl transferase.
What are three classic clinical manifestations in the liver due to Classic Galactosemia? Hypoglycemia, jaundice, and liver failure.
Which eye complication is associated with Classic Galactosemia due to galactitol accumulation? Cataracts.
Which type of infection is a major complication associated with Classic Galactosemia? Sepsis, especially E. coli.
What is the definitive management for Classic Galactosemia? Elimination of galactose from the diet (e.g., soy-based formula).
Phenylketonuria (PKU) is caused by a deficiency of which enzyme? Phenylalanine hydroxylase (PAH).
PKU results in the accumulation of Phenylalanine. What intermediate is produced via alternate minor pathways and excreted in urine? Phenyl ketone (phenyl pyruvate), phenyl lactate, and phenyl acetate.
What is the hallmark neurological symptom of untreated PKU? Severe irreversible intellectual disability.
What is the long-term management for PKU? Life-long dietary restriction of phenylalanine starting within the first 10 days of life.
What is the most frequent fatty acid oxidation disorder? Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD).
MCADD typically presents in infants and children after which two types of metabolic stress? Prolonged fasting or illnesses (e.g., fever).
What is a key laboratory finding in MCADD that results from the inability to switch to fat for energy? Hypoketotic hypoglycemia.
Hyperammonemia is a TIME CRITICAL medical emergency that is most commonly associated with inherited disorders of which two classes of metabolism? Amino acid and organic acid metabolism.
What are the first two steps in the initial management of a child presenting with hyperammonemia? Stop feeds and treat hypoglycemia.
Created by: MeanHeem
 

 



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