Abstract | OBJECTIVE: METHODS: RESULTS: CONCLUSION: Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency has detected cases with a wide range of genotypes and biochemical abnormalities. Although most children do well, adverse outcomes have not been entirely avoided. Assessment of potential risk and determination of appropriate treatment remain a challenge.
|
Authors | Ho-Wen Hsu, Thomas H Zytkovicz, Anne Marie Comeau, Arnold W Strauss, Deborah Marsden, Vivian E Shih, George F Grady, Roger B Eaton |
Journal | Pediatrics
(Pediatrics)
Vol. 121
Issue 5
Pg. e1108-14
(May 2008)
ISSN: 1098-4275 [Electronic] United States |
PMID | 18450854
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
|
Chemical References |
- Biomarkers
- decanoylcarnitine
- Acyl-CoA Dehydrogenase
- octanoylcarnitine
- Carnitine
|
Topics |
- Acyl-CoA Dehydrogenase
(deficiency, genetics)
- Biomarkers
(blood)
- Breast Feeding
- Carnitine
(analogs & derivatives, blood)
- Humans
- Infant Formula
- Infant, Newborn
- Neonatal Screening
- Point Mutation
- Sequence Analysis, DNA
|