Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement

Dror Kraus, Huda Abdelrahim, Orith Waisbourd-Zinman, Elena Domin, Avraham Zeharia, Orna Staretz-Chacham

Research output: Contribution to journalArticlepeer-review


Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of their workup during the first four months of life. In eight of nine (89%) patients, serum AFP demonstrated elevated levels. Seven infants displayed marked elevations, ranging from 4 to 300 times the upper limit for age-adjusted norms. In most patients, AFP levels peaked during the initial test and declined over time as cholestasis resolved. We conclude that elevated AFP levels are a common, although non-specific, marker for NPC-associated liver disease. These findings demonstrate the benefit of including AFP levels in the workup of neonatal liver disease, especially if there is accompanied cholestasis and if NPC is suspected.

Original languageEnglish
Article number545
Issue number4
StatePublished - 1 Apr 2022


  • Alpha-fetoprotein
  • Niemann-Pick disease type C
  • cholestasis
  • hepatic involvement

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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