transient neonatal multiple acyl-CoA dehydrogenase deficiency
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.
MONDO:0017714
acyl-CoA dehydrogenase deficiency
is_a
transient neonatal MAD deficiency
exact
transient neonatal MADD
exact
transient neonatal glutaric acidemia type 2
exact
transient neonatal glutaric aciduria type 2
exact