eSanatos - sanatatea ta e preocuparea noastra!
    Cauta in site
NutritieBoli
                 Home | Creeaza cont nou | Login membri


Diseases

NAVIGARE RAPIDA: » Pagina principala » GHID MEDICAL » termeni medicali » diseases

Branched-chain ketoaciduria (maple syrup urine disease)   171


Branched-Chain Ketoaciduria (Maple Syrup Urine Disease)& 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;   & 555d39f nbsp;  171

General: Deficiency in the oxidative decarboxylation of the corresponding α-ketoacids; possibly autosomal recessive inheritance; both sexes affected; onset in first week of life.

Ocular: Ptosis; epicanthal folds; hypertelorism; prominence of supraorbital ridges; cataract; strabismus; decreased or absent pupillary reaction to light; horizontal nystagmus; optic atrophy; ophthalmoplegia.

Clinical: Maple syrup odor of urine; neurologic symptoms; death may follow promptly or the patient may live for a decade during which severe mental retardation is apparent; vomiting; failure to thrive; absence of grasping reflex; generalized rigidity; hypoglycemic crisis; cortical blindness.

Burke JP, et al. Ophthalmic findings in maple syrup urine disease. Metab Pediatr Syst Ophthalmol 1991; 14:12-l5.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982:247.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

Roy FH, Kelly ML. Maple syrup urine disease. J Pediatr Ophthalmol 1973; 10:70-73.




Alte materiale medicale despre: diseases

Congenital Cataract, Microcornea, Abnormal Irides, Nystagmus, and Congenital Glaucoma Syndrome  277 Gen [...]
Neuronal Ceroid Lipofuscinosis (Neuronall Intranuclear Inclusion Disease; NIID) 8 [...]
Oculo-Oto-Oro-Reno-Erythropoietic Disease General: Et [...]

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?
    Daca vrei raspunsuri scrie intrebarea mai jos:

    Unde se incadreaza problema medicala?

    Scrie codul din imaginea alaturat

    Vezi toate intrebarile