/transient neonatal multiple acyl-CoA dehydrogenase deficiency

transient neonatal multiple acyl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0018014

Also Known As

transient neonatal MAD deficiencytransient neonatal MADDtransient neonatal glutaric acidemia type 2transient neonatal glutaric aciduria type 2

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.