Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 (see this term) 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. Disease data Classification Disease Synonyms Transient neonatal MAD deficiency Przejściowa noworodkowa acyduria glutarowa typu 2 Przejściowa noworodkowa kwasica glutarowa typu 2 Przejściowy noworodkowy MADD Przejściowy noworodkowy Niedobór MAD Transient neonatal MADD Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 ORPHA code 329942 OMIM code - ICD10 code E71.3 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl