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Questions and Answers
What is a common characteristic of inherited metabolic disorders?
What is a common characteristic of inherited metabolic disorders?
- Symptoms that primarily affect muscular strength
- Temporary symptoms that resolve on their own
- Severe clinical illness that appears soon after birth (correct)
- Mild symptoms appearing in adolescence
Why can prenatal diagnosis of many metabolic disorders be challenging?
Why can prenatal diagnosis of many metabolic disorders be challenging?
- It requires advanced surgical techniques
- It is only possible after the birth of an affected child (correct)
- Prenatal diagnosis significantly increases the risk of miscarriage
- Most metabolic disorders are not detectable in utero
Which of these symptoms would NOT typically prompt an evaluation for a metabolic disorder in an infant?
Which of these symptoms would NOT typically prompt an evaluation for a metabolic disorder in an infant?
- Experiencing seizures
- Running a chronic fever without explanation
- Eating less food than normal (correct)
- Persistent vomiting
Which test is NOT typically part of the initial assessment for suspected metabolic disorders in infants?
Which test is NOT typically part of the initial assessment for suspected metabolic disorders in infants?
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What is a major benefit of advances in newborn screening technology?
What is a major benefit of advances in newborn screening technology?
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How has tandem mass spectrometry impacted newborn screening laboratories?
How has tandem mass spectrometry impacted newborn screening laboratories?
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Study Notes
Inherited Metabolic Disorders
- Most inherited metabolic disorders are associated with severe clinical illness, which often appears soon after birth.
- Symptoms may include intellectual disability and severe neurologic involvement.
- Diagnosis of a specific disorder can be difficult, and treatment may be uncertain.
Prenatal Diagnosis and Newborn Screening
- Prenatal diagnosis is available for many metabolic disorders, but it requires identification of a family at risk.
- Family risk is usually identified only after the birth of an affected child.
- Effective newborn screening programs, advanced diagnostic techniques, and treatment modalities have improved outcomes for many infants.
Identifying Infants at Risk
- Infants suspected of having a metabolic disorder should be referred to centers with expertise in treating these disorders.
- Warning signs include:
- Afebrile for no apparent reason
- Lethargy
- Vomiting
- Respiratory distress
- Seizures
Initial Assessment
- Initial assessment should include:
- Blood gas measurements
- Electrolyte values
- Glucose and ammonia tests
- Urine test for ketones
Advances in Newborn Screening
- Advances in newborn screening technology offer opportunities for:
- Earlier diagnosis
- Prevention of neurologic crisis
- Improved intellectual and physical outcomes
- Tandem mass spectrometry techniques in newborn screening laboratories can detect:
- A broader range of metabolic disorders
- Identification of the disorder
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