Familial hypodigoxinemic membrane Na(+)-K(+) ATPase upregulatory syndrome - relation between digoxin status and cerebral dominance.
A family with coexistence of hypotension, recurrent respiratory infection, motor tics, obsessive compulsive disorder, major depressive disorder, early onset osteoporosis, low body mass index, bulimia nervosa and healthy aging with longevity is described. The family members had hyposexual behavior, less tendency for spirituality, had no insomnia but a tendency towards increased somnolence, no addictive behaviour, had more bonding and affectionate behavior and were less creative with an average IQ. There was no vascular thrombosis, systemic neoplasm and neuronal degeneration in the index family. All members of the family were left hemispheric dominant. The level of serum digoxin, HMG CoA reductase activity and dolichol was found to be decreased in all with a corresponding increase in RBC Na(+)-K(+) ATPase activity and serum ubiquinone magnesium level. There was increase in tyrosine catabolites and a reduction in tryptophan catabolites in serum. Total and individual glycosaminoglycan fractions, carbohydrate residues of glycoproteins, glycolipids, activity of GAG degrading enzymes and glycohydrolases were decreased in serum. The concentration of RBC membrane total GAG and carbohydrate residues of glycoproteins increased while cholesterol : phospholipid ratio of membrane decreased. The activity of free radical scavenging enzymes were increased while the concentration of free radicals decreased significantly. The same biochemical patterns were observed in left hemispheric dominance as opposed to right hemispheric dominance. The significance of these findings in the pathogenesis of these disorders is discussed.
Kumar
A R
AR
Department of Neurology, Medical College Hospital, Trivandrum, Kerala, India.
Kurup
P A
PA
D002298:Cardenolides; D003865:Major Depressive Disorder / Q000235:genetics / Q000378:metabolism; D004077:Digoxin / Q000097:blood*; D004286:Dolichols / Q000378:metabolism; D004292:Dominance, Cerebral; D005192:Family Health; D005260:Female; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000378:metabolism; D008297:Male; D009771:Obsessive-Compulsive Disorder / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D012503:Saponins / Q000097:blood*; D000254:Sodium-Potassium-Exchanging ATPase / Q000378:metabolism*; D014451:Ubiquinone / Q000378:metabolism
D002298:Cardenolides; D004286:Dolichols; D012503:Saponins; C034504:digoxin-like factors; D014451:Ubiquinone; D004077:Digoxin; D006903:Hydroxymethylglutaryl CoA Reductases; D000254:Sodium-Potassium-Exchanging ATPase