Number of the records: 1
choroba z deficitu pyruvátdehydrogenázového komplexu
Record number d015325 Date 06.06.2025 Type M - MESH Topical term choroba z deficitu pyruvátdehydrogenázového komplexu Other term English (Pseudonym) Ataxia with Lactic Acidosis, Type I
English (Pseudonym) Lactic Acidosis with Ataxia, Type I
Slovak (Pseudonym) deficit pyruvátdehydrogenázového komplexu
Slovak (Pseudonym) ataxia s laktátovou acidózou, typ I
Slovak (Pseudonym) acidóza laktátová s ataxiou, typ I
See also (Later heading) Leighov syndróm
(Skutočné meno) Leighov syndróm
(Skutočné meno) komplex pyruvátdehydrogenázy
UDC C10.228.140.163.100.750C10.597.606.360.455.875C16.320.322.500.875C16.320.400.525.875C16.320.565.189.750C16.320.565.202.810.766C18.452.132.100.750C18.452.648.189.750C18.452.648.202.810.766C18.452.660.710 Note 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. 
subject heading
Number of the records: 1