title: Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinol intake.
abstract: A 2-year-old boy had signs and symptoms of chronic hypervitaminosis A. A course of increasing severity led to eventual death. A younger brother later had similar clinical features. Chicken liver spread containing up to 420 IU/g vitamin A was the likely source of intoxication. Markedly elevated circulating retinyl ester levels have persisted in the surviving sibling for 3 subsequent years despite severe restriction of vitamin A intake. A therapeutic trial of the carbohydrate-derived complexing agent 2-hydroxypropyl-beta-cyclodextrin was initiated. Circulating retinyl esters transiently increased during the infusion (from 407 to 4791 micrograms/dL), and urinary total vitamin A excretion, undetectable before infusion, increased to 23 micrograms/dL after infusion. The frequency of hypervitaminotic episodes has decreased somewhat in the 2 years since the infusion, probably related to dietary vitamin A restriction. The occurrence of this syndrome in two brothers, while a sister ingesting the same diet remains completely healthy, suggests an inherited variance in tolerance to vitamin A intake.
authors: Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut 06510.
authors: T O
authors: TO
authors: Carpenter
authors: J M
authors: JM
authors: Pettifor
authors: R M
authors: RM
authors: Russell
authors: J
authors: J
authors: Pitha
authors: S
authors: S
authors: Mobarhan
authors: M S
authors: MS
authors: Ossip
authors: S
authors: S
authors: Wainer
authors: C S
authors: CS
authors: Anast
mesh_terms: D000073738:2-Hydroxypropyl-beta-cyclodextrin; D002265:Carboxylic Ester Hydrolases / Q000378:metabolism; D002675:Child, Preschool; D003505:Cyclodextrins / Q000008:administration & dosage / Q000627:therapeutic use; D004952:Esters / Q000378:metabolism; D006801:Humans; D006986:Hypervitaminosis A / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D007262:Infusions, Intravenous; D008297:Male; D012176:Retinoids / Q000378:metabolism; D014801:Vitamin A / Q000378:metabolism*; D047392:beta-Cyclodextrins
chemical_list: D003505:Cyclodextrins; D004952:Esters; D012176:Retinoids; D047392:beta-Cyclodextrins; D014801:Vitamin A; D000073738:2-Hydroxypropyl-beta-cyclodextrin; D002265:Carboxylic Ester Hydrolases; C022523:retinyl esterase