Hartnup Syndrome (pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome; H Disease; Niacin Deficiency)
General: Recessive; inborn error in amino acid metabolism with abnormal metabolism of tryptophan; both sexes affected; presents from infancy.
Ocular: Ectropion; symblepharon; nystagmus; scleral ulcers; corneal leukoma; photophobia; diplopia during attacks.
Clinical: Dermatitis (similar to pellagra) with skin eruptions; progressive mental retardation; cerebellar ataxia.
McLaren DS. Cutaneous changes in nutritional disorders. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al., eds. Dermatology in General Medicine, 3rd ed. New York: McGraw-Hill, 1987:1601-l613.
Scriver CR. Hartnup disease: a genetic modification of intestinal and renal transport of certain neutral alpha-amino acids. N Engl J Med 1965; 273:530.
Singh S, et al. Hartnup disease: a case report. Ind Pediatr 1978; 15:191-l93.
Hydatid Cyst (Echinococcosis) [...] |
Haney-Falls Syndrome (Congenital Keratoconus Posticus Circumscriptus Syndrome) 5 General: Etiology unknown; autosomal domi [...] |
Dental-Ocular-Cutaneous Syndrome &nbs [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
