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5 Cards in this Set
- Front
- Back
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Disorders not detected by MS/MS?
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- Galactosemia
- OTC (low citrulline - MS/MS only picks up elevated leveles) - Hemoglobinopathies - Congenital hypothyroidism - Congenital adrenal hyperplasia - CF - Biotinidase |
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What does MS/MS look for?
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acylcarnitines and elevated levels of amino acids
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Goal of NBS
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Identify babies with treatable conditions before damage can be done.
Disorder should be: frequent, severe, treatable, identifiable Test should be: simple, reliable (high specificity and sensitivity), valid, inexpensive, available |
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Causes of False Positives
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- Specimen collected too early (<24h)
- Prematurity - Liver disease - Hyperalimentation |
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Congenital Adrenal Hyperplasia
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patients do not produce enough cortisol and aldosterone, and produce too much androgen
Genetics: 95% caused by defects in 21-hydroxylase (CYP21); AR Sxs: - females: ambig gen; hirsutism; "masculinization" - males: nl genitalia but premature puberty (as early as age 2); FTT/vomiting; salt-wasting Severe cases can present with arrhythmias |
