Biochemical Tests for Inherited Metabolic Disorders

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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?

6%

2%

8%

4% (correct)

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 there is metabolic acidosis Signup and view all the answers

What basic laboratory tests can provide initial clues to underlying metabolic disease?

ABGs, electrolytes, glucose, lactate, ammonia and urine analysis Signup and view all the answers

How do inherited metabolic disorders usually present in infants?

With poor feeding, lethargy, and failure to thrive Signup and view all the answers

What is the purpose of initiating appropriate therapy without a final diagnosis in cases of suspected inherited metabolic disorders?

To prevent an increase in morbidity or mortality associated with these conditions Signup and view all the answers

What is the main cause of an increased anion gap in metabolic acidosis?

Accumulation of organic acids Signup and view all the answers

Which condition may cause lactic acidosis in neonates?

Inadequate tissue perfusion or oxygen supply Signup and view all the answers

What is the most common cause of a decreased anion gap?

Hypoalbuminemia Signup and view all the answers

Which type of metabolic acidosis is characterized by a normal anion gap?

Hyperchloremic metabolic acidosis Signup and view all the answers

In which diagnostic situation is the ferric chloride test commonly used?

Detecting organic acids in urine Signup and view all the answers

Which condition is NOT typically associated with causing lactic acidosis?

Renal failure Signup and view all the answers

What is the function of the anion gap in evaluating metabolic acidosis?

Evaluating the concentration of unmeasured anions Signup and view all the answers

Which category of disorders may be associated with inborn errors of metabolism causing lactic acidosis?

Metabolic disorders Signup and view all the answers

What is the typical result of lactic acidosis once the underlying cause is treated?

It resolves relatively quickly. Signup and view all the answers

Which of the following symptoms should raise suspicion of a metabolic disorder in a child?

Metabolic acidosis and inappropriate ketosis Signup and view all the answers

What do basic laboratory tests such as ABGs, electrolytes, glucose, lactate, ammonia, and urine analysis provide in cases of suspected IMD?

Initial clues to the underlying metabolic disease Signup and view all the answers

Which of the following is a common sign or symptom of inherited metabolic disorders in infants?

Hypoglycemia and failure to thrive Signup and view all the answers

What type of investigations are often not available at many medical centers for evaluating patients suspected of having IMD?

Detailed amino acid, organic acid, or acylcarnitine analysis Signup and view all the answers

What may early diagnosis and treatment of IMD help prevent in affected individuals?

Brain damage and mental retardation Signup and view all the answers

Which of the following should lead to suspicion of a metabolic disorder in a child according to the provided information?

Cardiomyopathy and hepatocellular dysfunction Signup and view all the answers

What is the main cause of an increased anion gap in metabolic acidosis?

Accumulation of organic acids Signup and view all the answers

Which diagnostic situation is the ferric chloride test commonly used for?

Detecting organic acids Signup and view all the answers

What is the typical result of lactic acidosis once the underlying cause is treated?

It resolves relatively quickly Signup and view all the answers

What is the function of the anion gap in evaluating metabolic acidosis?

To assess the concentration of unmeasured anions Signup and view all the answers

Which type of metabolic acidosis is characterized by a normal anion gap?

Hyperchloremic acidosis Signup and view all the answers

What basic laboratory test can provide initial clues to underlying metabolic disease?

Complete blood count Signup and view all the answers

What kind of investigations are needed to evaluate a patient suspected of having an inherited metabolic disorder?

Urine tests for organic acids and blood tests for lactic acid Signup and view all the answers

When evaluating a neonate who has an anion gap metabolic acidosis, what is helpful to determine?

The underlying cause of the gap Signup and view all the answers

Biochemical Tests for Inherited Metabolic Disorders

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Questions and Answers

Which of the following is a non-specific sign or symptom of inherited metabolic disorders?

What percentage of individuals born in the United States have a genetic or partly genetic disorder?

What kind of investigations are needed to evaluate a patient suspected of having an inherited metabolic disorder?

When should a metabolic disorder be suspected in a child?

What basic laboratory tests can provide initial clues to underlying metabolic disease?

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 main cause of an increased anion gap in metabolic acidosis?

Which condition may cause lactic acidosis in neonates?

What is the most common cause of a decreased 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?

Which condition is NOT typically associated with causing lactic 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?

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?

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?

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?

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?

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 function of the anion gap in evaluating metabolic acidosis?

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 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?

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