First Newborn Screening Result
Elevated C16 & C18:1 acylcarnitine, (hydroxyhexadecanoyl- and hydroxyoctadecanoyl-carnitines), associated with Carnitine Palmitoyltransferase II (CPT II) Deficiency (or Carnitine Translocase Deficiency)
C16 & C18:1 elevated, C16 > 12; C18:1 > 4
probable CPT II deficiency (or Translocase deficiency) |
