Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report

Gan, Y; Yu, F; Fang, HN

Fang, HN (corresponding author), Huazhong Univ Sci & Technol, Maternal & Child Hlth Hosp Hubei Prov, Tongji Med Coll, Pediat Dept, Wuhan, Peoples R China.; Fang, HN (corresponding author), Neonatal Genet Metab Dis Screening & Treatment Ct, Wuhan, Peoples R China.

ITALIAN JOURNAL OF PEDIATRICS, 2021; 47 (1):

Abstract

Background Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketoti......

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