[Clinical heterogeneity of X-linked adrenoleukodystrophy ].
X-linked adrenoleukodystrophy (X-ALD) is a relatively common world spread disease characterized by significant clinical heterogeneity. Clinico-biochemical examination in the Medico-genetic research center identified, 20 X-ALD cases in 17 families over 5 years. Prevalence of children (60%) and adolescence (25%) cerebral forms is explained, in part, by patients referring for medical-genetic counseling. Adrenomyeloneuropathy was diagnosed in one patient. In two healthy siblings presymptomatic stage was found. A main X-ALD biochemical marker is an increase of very long chain fatty acids (VLCFA) level, which does not depend on clinical form of the disease. Most interesting appeared to be a family including 5 patients in 3 generations with intrafamilial combination of childhood and adolescence cerebral forms, and atypically mild disease course in proband. Regarding symptoms of childhood and adolescence cerebral forms, attention has been drawn to 3 patients with tics, which mask organic nature of the disease on its initial stage. X-ALD is so far incurable, but its timely diagnosis provides an adequate medico-genetic help on the base of modern prenatal diagnosis.
Rudenskaia
G E
GE
Shekhter
O V
OV
Zakharova
E Iu
EIu
Dadali
E L
EL
Solokha
O A
OA
Lomonosova
E Z
EZ
Goncharov
V M
VM
Karmanov
M E
ME
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000097:blood / Q000235:genetics; D000308:Adrenocortical Hyperfunction / Q000175:diagnosis; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D000367:Age Factors; D041321:Chromosomes, Human, X / Q000235:genetics; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D008040:Genetic Linkage; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020323:Tics / Q000175:diagnosis
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005227:Fatty Acids; C017364:hexacosanoic acid