Počet záznamov: 1
choroba z deficitu pyruvátdehydrogenázového komplexu
SYS d015325 LBL 00000nz--a2200000o--4500 005 20250606214642.6 008 920601|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.750 065 $a C10.597.606.360.455.875 065 $a C16.320.322.500.875 065 $a C16.320.400.525.875 065 $a C16.320.565.189.750 065 $a C16.320.565.202.810.766 065 $a C18.452.132.100.750 065 $a C18.452.648.189.750 065 $a C18.452.648.202.810.766 065 $a C18.452.660.710 066 $a 01 $c 03 150 $a choroba z deficitu pyruvátdehydrogenázového komplexu $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 Ataxia with Lactic Acidosis, Type I $2 eng 450 $w v $a Lactic Acidosis with Ataxia, Type I $2 eng 450 $w v $a deficit pyruvátdehydrogenázového komplexu $2 slo 450 $w v $a ataxia s laktátovou acidózou, typ I $2 slo 450 $w v $a acidóza laktátová s ataxiou, typ I $2 slo 550 $7 sllk_us_auth*d007888 $Y Leigh Disease $w b $a Leighov syndróm 550 $7 sllk_us_auth*d007888 $Y Leigh Disease $w p $a Leighov syndróm 550 $7 sllk_us_auth*d011768 $Y Pyruvate Dehydrogenase Complex $w p $a komplex pyruvátdehydrogenázy 665 $a 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 $2 eng 665 $a Pyruvate Dehydrogenase Complex/deficiency (1974-1988) $2 eng 680 9-
$i An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. $2 eng 750 -2
$a Pyruvate Dehydrogenase Complex Deficiency Disease $2 eng 980 $x M
Počet záznamov: 1