From: Rolling stones: an instructive case of neonatal cholestasis
PI typing | MZ Type, heterozygosity |
---|---|
Alpha 1 antitrypsin level | 120 mg/dL |
Bile acids level | 160 umol/L |
TSH | 1.704 mIU/L |
Free T4 | 1.2 ng/dL |
Vitamin A level | 0.28 mg/L |
Vitamin E level | 3.2 mg/L |
Vitamin D 25OH level | 5.5 ng/mL (L) |
INR | 0.9 |
HHV-6 tissue | Negative |
EBV tissue | Negative |
CMV tissue | Negative |
Genetic cholestasis panel | SERPINA1(NM_000295.4):c. 1096G > A (p.E366K), heterozygous, pathogenic |