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leucinóza
Č. záznamu d008375 Dátum 06.06.2025 Typ M Tematický termín leucinóza Iný termín Angličtina (Pseudonym) Branched-Chain Ketoaciduria
Angličtina (Pseudonym) Thiamine Responsive Maple Syrup Urine Disease
Slovenčina (Pseudonym) choroba javorového sirupu
Slovenčina (Pseudonym) ketoacidúria rozvetvených oxokyselín
Slovenčina (Pseudonym) prítomnosť rozvetvených oxokyselín v moči
Slovenčina (Pseudonym) choroba javorového sirupu responzívna na tiamín
Slovenčina (Pseudonym) choroba javorového sirupu reagujúca na tiamín
Pozri tiež (Novšie záhlavie) moč
(Novšie záhlavie) 3-metyl-2-oxobutanoátdehydrogenáza (lipoamid)
MDT C10.228.140.163.100.520C16.320.565.100.608C16.320.565.189.520C18.452.132.100.520C18.452.648.100.608C18.452.648.189.520 Poznámka 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) 
predmetové heslo
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