Ontology highlight
ABSTRACT:
SUBMITTER: Carmona SMG
PROVIDER: S-EPMC9844480 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
Carmona Suzanne Marie G SMG Abacan Mary Ann R MAR Alcausin Maria Melanie Liberty B MMLB
International journal of neonatal screening 20230111 1
Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is of a 24-year-old G2P2(2000) mother who sought consultation for recurrent neonatal deaths. The neonates, born two years apart, were apparently well at birth but had a fair cry and no spontaneous eye opening within the first 24 h of life and died before ...[more]