Abstract | BACKGROUND: METHODS: We present the results of two children whose NBS results and subsequent confirmatory testing resulted in a suspected diagnosis of MADD. In parallel in both children vitamin B12 deficiency was detected. RESULTS: Biochemical profiles normalized rapidly in both children under supplementation with riboflavin. After extensive work-up of both cases including molecular genetic studies there was no indication of MADD. Vitamin B12 deficiency in both children was caused by maternal vitamin B12 deficiency and was rapidly corrected by oral supplementation with vitamin B12 or (partial) formula feeding. As both vitamin B12 and riboflavin have similar food sources we postulate that in these cases positive NBS for MADD was caused by combined maternal vitamin B deficiencies. CONCLUSION:
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Authors | Gwendolyn Gramer, Georg F Hoffmann, Julia B Hennermann |
Journal | Molecular genetics and metabolism reports
(Mol Genet Metab Rep)
Vol. 27
Pg. 100738
(Jun 2021)
ISSN: 2214-4269 [Print] United States |
PMID | 33732619
(Publication Type: Journal Article)
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Copyright | © 2021 The Authors. |