Number of the records: 1
leucinóza
SYS d008375 LBL 00000cz--a2200000o--4500 005 20250606213109.0 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.520 065 $a C16.320.565.100.608 065 $a C16.320.565.189.520 065 $a C18.452.132.100.520 065 $a C18.452.648.100.608 065 $a C18.452.648.189.520 066 $a 01 $c 03 150 $a leucinóza $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Branched-Chain Ketoaciduria $2 eng 450 $w v $a Thiamine Responsive Maple Syrup Urine Disease $2 eng 450 $w v $a choroba javorového sirupu $2 slo 450 $w v $a ketoacidúria rozvetvených oxokyselín $2 slo 450 $w v $a prítomnosť rozvetvených oxokyselín v moči $2 slo 450 $w v $a choroba javorového sirupu responzívna na tiamín $2 slo 450 $w v $a choroba javorového sirupu reagujúca na tiamín $2 slo 550 $7 sllk_us_auth*d014556 $Y Urine $w b $a moč 550 $7 sllk_us_auth*d042942 $Y 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) $w b $a 3-metyl-2-oxobutanoátdehydrogenáza (lipoamid) 680 9-
$i 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) $2 eng 750 -2
$a Maple Syrup Urine Disease $2 eng 980 $x M
Number of the records: 1