Table 1.

Main clinical and biochemical features, brain MRI characteristics and treatments of the family members with X-ALD.

	Cases
	1†	2	3	4	5
Sex	M	M	M	F	F
Age at diagnosis, years	9	15	12	14	41
Symptoms	Anorexia, asthenia, abdominal pain, salt craving	Anorexia, fatigue, hyperpigmentation	None	None	Asthenia, tiring easily on walking, sensitive alteration
Adrenal function
Sodium, mmol/L	123
Cloremia, mmol/L	87
ACTH, pg/mL	>1500	>1500	65.1	Normal	Normal
Cortisol, µg/dL	8.3	2.5	11.2*
Renin, µ/mL	>500
VLCFA, µmol/L
C26:0	2.090	1.150	1.290	2.390	2.390
C26:0/C22:0	0.036	0.033	0.034	0.025	0.036
C24:0/C22	1.149	1.161	1.243	1.089	1.089
Brain MRI	Normal	Normal	Normal	Normal	MLE
Therapy	HC, DR, oil mix	HC, DR, oil mix	HC, DR, oil mix	DR	HC, DR, oil mix

^†Index case; *Reduced cortisol response to ACTH.

DR, dietary restrictions; HC, hydrocortisone; MLE, multifocal leuco-encephalopathy; Oil mix: erucic acid/ glycerolotrioleate acid/ conjugate linolenic acid; VLCFA, very long chain fatty acid.