Article
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Molecular genetics and metabolism - 1 Jan 2020
Sadat Roa, Hall Patricia L, Wittenauer Angela L, Vengoechea Elizabeth D, Park Kevin, Hagar Arthur F, Singh Rani, Moore Reneé H, Gambello Michael J
Abstract excerpt
The long-term consequences and need for therapy in children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBDD) identified via newborn screening (NBS) remains controversial. Initial clinical descriptions were severe; however, while most cases identified through NBS have remained asymptomatic, clinical concerns have been raised in these populations. It is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
