Podcast
Questions and Answers
Which of the following is a non-specific sign or symptom of inherited metabolic disorders?
Which of the following is a non-specific sign or symptom of inherited metabolic disorders?
- Rash
- Hypertension
- Lethargy (correct)
- Fever
What percentage of individuals born in the United States have a genetic or partly genetic disorder?
What percentage of individuals born in the United States have a genetic or partly genetic disorder?
- 6%
- 2%
- 8%
- 4% (correct)
What kind of investigations are needed to evaluate a patient suspected of having an inherited metabolic disorder?
What kind of investigations are needed to evaluate a patient suspected of having an inherited metabolic disorder?
- MRI only
- CT scan only
- Ultrasound only
- Detailed amino acid, organic acid, and acylcarnitine analysis (correct)
When should a metabolic disorder be suspected in a child?
When should a metabolic disorder be suspected in a child?
What basic laboratory tests can provide initial clues to underlying metabolic disease?
What basic laboratory tests can provide initial clues to underlying metabolic disease?
How do inherited metabolic disorders usually present in infants?
How do inherited metabolic disorders usually present in infants?
What is the purpose of initiating appropriate therapy without a final diagnosis in cases of suspected inherited metabolic disorders?
What is the purpose of initiating appropriate therapy without a final diagnosis in cases of suspected inherited metabolic disorders?
What is the main cause of an increased anion gap in metabolic acidosis?
What is the main cause of an increased anion gap in metabolic acidosis?
Which condition may cause lactic acidosis in neonates?
Which condition may cause lactic acidosis in neonates?
What is the most common cause of a decreased anion gap?
What is the most common cause of a decreased anion gap?
Which type of metabolic acidosis is characterized by a normal anion gap?
Which type of metabolic acidosis is characterized by a normal anion gap?
In which diagnostic situation is the ferric chloride test commonly used?
In which diagnostic situation is the ferric chloride test commonly used?
Which condition is NOT typically associated with causing lactic acidosis?
Which condition is NOT typically associated with causing lactic acidosis?
What is the function of the anion gap in evaluating metabolic acidosis?
What is the function of the anion gap in evaluating metabolic acidosis?
Which category of disorders may be associated with inborn errors of metabolism causing lactic acidosis?
Which category of disorders may be associated with inborn errors of metabolism causing lactic acidosis?
What is the typical result of lactic acidosis once the underlying cause is treated?
What is the typical result of lactic acidosis once the underlying cause is treated?
Which of the following symptoms should raise suspicion of a metabolic disorder in a child?
Which of the following symptoms should raise suspicion of a metabolic disorder in a child?
What do basic laboratory tests such as ABGs, electrolytes, glucose, lactate, ammonia, and urine analysis provide in cases of suspected IMD?
What do basic laboratory tests such as ABGs, electrolytes, glucose, lactate, ammonia, and urine analysis provide in cases of suspected IMD?
Which of the following is a common sign or symptom of inherited metabolic disorders in infants?
Which of the following is a common sign or symptom of inherited metabolic disorders in infants?
What type of investigations are often not available at many medical centers for evaluating patients suspected of having IMD?
What type of investigations are often not available at many medical centers for evaluating patients suspected of having IMD?
What may early diagnosis and treatment of IMD help prevent in affected individuals?
What may early diagnosis and treatment of IMD help prevent in affected individuals?
Which of the following should lead to suspicion of a metabolic disorder in a child according to the provided information?
Which of the following should lead to suspicion of a metabolic disorder in a child according to the provided information?
What is the main cause of an increased anion gap in metabolic acidosis?
What is the main cause of an increased anion gap in metabolic acidosis?
Which diagnostic situation is the ferric chloride test commonly used for?
Which diagnostic situation is the ferric chloride test commonly used for?
What is the typical result of lactic acidosis once the underlying cause is treated?
What is the typical result of lactic acidosis once the underlying cause is treated?
What is the function of the anion gap in evaluating metabolic acidosis?
What is the function of the anion gap in evaluating metabolic acidosis?
Which type of metabolic acidosis is characterized by a normal anion gap?
Which type of metabolic acidosis is characterized by a normal anion gap?
What basic laboratory test can provide initial clues to underlying metabolic disease?
What basic laboratory test can provide initial clues to underlying metabolic disease?
What kind of investigations are needed to evaluate a patient suspected of having an inherited metabolic disorder?
What kind of investigations are needed to evaluate a patient suspected of having an inherited metabolic disorder?
When evaluating a neonate who has an anion gap metabolic acidosis, what is helpful to determine?
When evaluating a neonate who has an anion gap metabolic acidosis, what is helpful to determine?
