Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. Academic Article uri icon

Overview

abstract

  • Carnitine palmitoyltransferase-II (CPT-II) deficiency can be detected through newborn screening with tandem mass spectrometry. We report a 4-year-old patient with rhabdomyolysis due to CPT-II deficiency, which was initially missed by newborn screening. The patient presented with a 2-day history of fevers, upper respiratory infection, diffuse myalgia, and tea-colored urine. Her medical history was notable for frequent diffuse myalgia when ill. She was demonstrated to have homozygous mutation c.338C>T, p. S113L in CPT2, which is typically found in the adult-onset, myopathic form of the disease. An unknown number of CPT-II deficient patients with normal newborn screening have not yet presented to medical care with the adult-onset, myopathic form of disease. We conclude that (1) not all cases of CPT-II deficiency are currently detected through newborn screening, even when blood is appropriately collected on day 2 of life and (2) CPT-II deficiency should be kept on the differential for patients presenting with rhabdomyolysis, even if the newborn screening results were normal.

publication date

  • April 12, 2016

Identity

PubMed Central ID

  • PMC5413452

Scopus Document Identifier

  • 33748179301

Digital Object Identifier (DOI)

  • 10.1097/01.gim.0000223467.60151.02

PubMed ID

  • 27067077

Additional Document Info

volume

  • 33