Abstract | BACKGROUND: METHODS: In many states, FTCD deficiency can be incidentally detected on tandem mass spectrometry-based newborn screening of dried blood spots. In this work, we report the outcomes of infants identified to have FTCD deficiency through newborn screening. RESULTS: During the study period, 18 patients were identified to have FTCD deficiency and were referred and evaluated at one of the two participating metabolic centers. The overall rate of FTCD deficiency detected through the New Jersey screening program over the study time period was 1:58,982. At a mean age of 56 months at last follow-up: 3/18 (16%) had developmental delays requiring individualized education plans, no patients had profound intellectual disability; 4/16 (25%) had mild self-limited anemia, no patients had profound anemia. CONCLUSIONS: These data suggest that the majority of individuals with FTCD deficiency detected by newborn screening are asymptomatic.
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Authors | Rebecca C Ahrens-Nicklas, Rebecca D Ganetzky, Peggy W Rush, Robert L Conway, Can Ficicioglu |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 42
Issue 1
Pg. 140-146
(01 2019)
ISSN: 1573-2665 [Electronic] United States |
PMID | 30740726
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Copyright | © 2019 SSIEM. |