Table 1.

Clinical cohort of subjects with mild peroxisome biogenesis disorder–Zellweger spectrum disorder (PBD-ZSD)

Identifier	Age	Gender	Severity (parent-reported)	Pipecolic acid in plasma (μmol/L)	C26:0 - Hexacosanoic in plasma (μg/ml)	Genotype
PEX_FAM10–1	4	M	Mild to intermediate	225	3.44	PEX1-del exon24 c.2097_2098insT
PEX_FAM11–1	6	M	Mild to intermediate	36.2	1.34	PEX1-c.2528G > A (p.G843D)/p.Q128X
PEX_FAM12–1	4	F	Mild to intermediate	ND	ND	PEX1-c.2528G > A (p.G843D)/c.1961insCAGTGTGAA
PEX_FAM13–1	3	M	Intermediate to severe	111.5	1.68	PEX6 c.2663G >A (p.R888H), c.1220C >A (p.T407N)
PEX_FAM14–1	16	F	Mild	7	0.69	PEX1-c.2528G > A (p.G843D) homozygous
PEX_FAM14–4	16	M	Mild	4.5	0.62	PEX1-c.2528G > A (p.G843D) homozygous
PEX_FAM15–1	18	F	Mild to intermediate	9.7	1.01	PEX1-c.2528G > A (p.G843D) homozygous
PEX_FAM16–1	8	F	Mild to intermediate	12.6	1.44	PEX1-c.2528G > A (p.G843D), c.2097_2098insT
PEX_FAM17–1	34	F	Intermediate to severe	8.3	2.27	PEX1c.2528G > A (p.Gly843Asp), c.2097_2098insT
PEX_FAM18–1	6	M	Mild to intermediate	23.6	1.44	PEX1-C.1777G > A (p.G593R)/c.2916delA (p.G973fs)
PEX_FAM19–1	7	F	Mild	62.9	2.71	PEX1-c.2528G > A (p.G843D), c.2097_2098insT
PEX_FAM20–1	5	F	Mild to intermediate	135.7	2.96	PEX1-del exon 24/c.2097dupT
PEX_FAM21–1M	16	M	ND	52.2	0.75	PEX1-c.2528G > A (p.G843), c.2097_2098insT
PEX_FAM22–1	8	M	Mild to intermediate	20.2	1.41	PEX1-c.2528G > A (p.G843D)/c.484C > A (p P162T)
PEX_FAM23–1	3	F	Mild to intermediate	72.7	1.58	PEX1-c.2528G > A (p.G843D)/c.2383C > T (p.R795X)
PEX_FAM24–1	19	M	Intermediate to severe	8.4	1.17	ND
PEX_FAM25–1	ND	M	ND	6.98	0.35	PEX1-c.2528G > A (p.G843D) homozygous
PEX_FAM26–1	7	F	Mild to intermediate	55.5	2.11	PEX1-c.2528G > A (p.G843D)/, c.2097_2098insT
PEX FAM27–1	2	M	Mild to intermediate	130.3	2.76	PEX1 c.2528G > A (p.G843D)/p.lle370Leufs*17

ND, not done.