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Description

For quality control, we excluded participants who (1) have excess relatedness (more than 10 putative third-degree relatives), (2) have inconsistent information about sex based on genotyping and self-report, (3) have sex-chromosomes not XX or XY, (4) have poor-quality genotyping based on heterozygosity and missing rates, or (5) have withdrawn from UK Biobank

Diagnosis and treatment When molecular genetic testing is not definitive, the diagnosis of CPT1A is confirmed in a proband by the discovery of biallelic pathogenic mutations in CPT1A on molecular genetic testing or decreased carnitine palmitoyltransferase 1 (CPT 1) enzyme activity on cultured skin fibroblasts