Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening.

ABSTRACT:

Background

In infancy multiple acyl-CoA dehydrogenase deficiency (MADD) is commonly a severe inherited metabolic disease caused by genetic defects in electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase. Both enzymes require flavin adenine dinucleotide (FAD) as a cofactor. Riboflavin (vitamin B₂) is a precursor in the synthesis of FAD. MADD can be detected by newborn screening (NBS) based on elevation of multiple acylcarnitines.

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 ribo

SUBMITTER: Gramer G 

PROVIDER: S-EPMC7941148 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature