FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

ABSTRACT:

Background

Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. Recently, riboflavin transporter genes and the mitochondrial FAD transporter gene have also been associated with MADD-like phenotype.

Methods

We present a case of MADD identified by newborn biochemical screening in a full-term infant suggestive of both medium-chain acyl-CoA dehydrogenase deficiency and MADD. Urine organic acid GC/MS analysis was also concerning for both disorders. However, panel sequencing of ETFA, ETFB, ETFDH, and ACADM was unrevealing. Ultimately, a variant in the FAD synthase gene, FLAD1 was found explaining the clinical presentation.

Results

Exome sequen

SUBMITTER: Muru K 

PROVIDER: S-EPMC6732309 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature