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5 Cards in this Set

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Disorders not detected by MS/MS?
- Galactosemia
- OTC (low citrulline - MS/MS only picks up elevated leveles)
- Hemoglobinopathies
- Congenital hypothyroidism
- Congenital adrenal hyperplasia
- CF
- Biotinidase
What does MS/MS look for?
acylcarnitines and elevated levels of amino acids
Goal of NBS
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
Causes of False Positives
- Specimen collected too early (<24h)
- Prematurity
- Liver disease
- Hyperalimentation
Congenital Adrenal Hyperplasia
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