6 Questions
What is a common characteristic of inherited metabolic disorders?
Severe clinical illness that appears soon after birth
Why can prenatal diagnosis of many metabolic disorders be challenging?
It is only possible after the birth of an affected child
Which of these symptoms would NOT typically prompt an evaluation for a metabolic disorder in an infant?
Eating less food than normal
Which test is NOT typically part of the initial assessment for suspected metabolic disorders in infants?
MRI scan of the brain
What is a major benefit of advances in newborn screening technology?
Earlier diagnosis and prevention of neurologic crises
How has tandem mass spectrometry impacted newborn screening laboratories?
It helps in detecting a broader range of metabolic disorders
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
This quiz covers the diagnosis and treatment of inherited metabolic disorders, which can appear soon after birth and cause severe clinical illness, intellectual disability, and neurologic involvement.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
