Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Definition
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
Also known as transient neonatal glutaric acidemia type 2, transient neonatal glutaric aciduria type 2, transient neonatal MAD deficiency, transient neonatal MADD — per MONDO