Number of the records: 1
leucinóza
Record number d008375 Date 06.06.2025 Type M Topical term leucinóza Other term English (Pseudonym) Branched-Chain Ketoaciduria
English (Pseudonym) Thiamine Responsive Maple Syrup Urine Disease
Slovak (Pseudonym) choroba javorového sirupu
Slovak (Pseudonym) ketoacidúria rozvetvených oxokyselín
Slovak (Pseudonym) prítomnosť rozvetvených oxokyselín v moči
Slovak (Pseudonym) choroba javorového sirupu responzívna na tiamín
Slovak (Pseudonym) choroba javorového sirupu reagujúca na tiamín
See also (Later heading) moč
(Later heading) 3-metyl-2-oxobutanoátdehydrogenáza (lipoamid)
UDC 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 Note 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) 
subject heading
Number of the records: 1