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leucinóza

Heslo	leucinóza
Heslo anglicky	Maple Syrup Urine Disease
Odkazy	choroba javorového sirupu ketoacidúria rozvetvených oxokyselín prítomnosť rozvetvených oxokyselín v moči choroba javorového sirupu responzívna na tiamín choroba javorového sirupu reagujúca na tiamín
Angl. X odkazy	Branched-Chain Ketoaciduria Thiamine Responsive Maple Syrup Urine Disease
Vysvetľujúca pozn. v angl.	An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Odkazy	(6) - ČLÁNKY
	(2) - heslo MeSH
	(1) - CiBaMed

predmetové heslo

Počet záznamov: 1