label: CFTR-related metabolic syndrome
label_lc: cftr-related metabolic syndrome
description: Any metabolic syndrome in which the cause of the disease is a variation in the CRTR gene. It is characterized in infants with hypertrypsinogenemia on newborn screening who have normal or intermediate sweat chloride values and 2 CFTR mutations, including at least one that is not known to cause cystic fibrosis (CF), and thus do not meet CF Foundation guidelines for the diagnosis of CF.