Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Table 1

Very long chain fatty acid analysis in two patients.

	C26:0 (μmol/L)	C24:0 (μmol/L)	C22:0 (μmol/L)	C26:0/C22:0	C24:0/C22:0	Phytanic acid (μmol/L)	Pristanic acid (μmol/L)
Normal	0.6–1.3	37.4–79.4	41.1–90.3	0.011–0.026	0.689–1.008	0.42–3.77	0.0–1.5
Case I	11.027	27.041	31.037	0.355	0.871	24.064	4.276
Case II	10.036	46.135	29.223	0.343	1.579	21.359	3.346