Number of the records: 1
acidémia propiónová
SYS d056693 LBL 00000cz--a2200000n--4500 005 20250606214952.0 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 $d BA006 065 $a C16.320.565.100.823 065 $a C18.452.648.100.823 066 $a 01 $c 03 150 $a acidémia propiónová $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 Glycinemia, Ketotic $2 eng 450 $w v $a Ketotic Glycinemia $2 eng 450 $w v $a Ketotic Hyperglycinemia $2 eng 450 $w v $a PCC Deficiency $2 eng 450 $w v $a Propionicacidemia $2 eng 450 $w v $a Propionyl-CoA Carboxylase Deficiency $2 eng 450 $w v $a acidémia propionická $2 slo 450 $w v $a glycinémia ketotická $2 slo 450 $w v $a hyperglycinémia s ketoacidózou a leukopéniou $2 slo 450 $w v $a hyperglycinémia ketotická $2 slo 450 $w v $a deficit propionyl-CoA karboxylázy $2 slo 450 $w v $a deficit PCC $2 slo 450 $w v $a nedostatok PCC $2 slo 450 $w v $a acidúria propionická $2 slo 450 $w v $a propionacidémia $2 slo 450 $w v $a propionacidúria $2 slo 450 $w v $a deficiencia propionyl-CoA karboxylázy $2 slo 550 $7 sllk_us_auth*d043586 $Y Methylmalonyl-CoA Decarboxylase $w b $a metylmalonyl-CoA-dekarboxyláza 550 $7 sllk_us_auth*d043586 $Y Methylmalonyl-CoA Decarboxylase $w p $a metylmalonyl-CoA-dekarboxyláza 665 $a 2010 $2 eng 665 $a Methylmalonyl-CoA Decarboxylase (1981-2009) $2 eng 680 9-
$i Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia. $2 eng 750 -2
$a Propionic Acidemia $2 eng 980 $x M
Number of the records: 1