Ontology highlight
ABSTRACT:
SUBMITTER: El-Gharbawy A
PROVIDER: S-EPMC6566095 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
El-Gharbawy Areeg A Vockley Jerry J
Pediatric clinics of North America 20171228 2
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presympto ...[more]