Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.
Peroxisomal fatty acyl-CoA reductase 1 (FAR1) deficiency is a rare single-enzyme peroxisomal disorder caused by biallelic pathogenic variants in FAR1, typically manifesting with severe neurodevelopmental delay, hypotonia, early-onset epilepsy, and congenital cataracts. We report a male infant born to first-cousin paren...