Počet záznamov: 1
choroba z deficitu pyruvátdehydrogenázového komplexu
Č. záznamu d015325 Dátum 06.06.2025 Typ M - MESH Tematický termín choroba z deficitu pyruvátdehydrogenázového komplexu Iný termín Angličtina (Pseudonym) Ataxia with Lactic Acidosis, Type I
Angličtina (Pseudonym) Lactic Acidosis with Ataxia, Type I
Slovenčina (Pseudonym) deficit pyruvátdehydrogenázového komplexu
Slovenčina (Pseudonym) ataxia s laktátovou acidózou, typ I
Slovenčina (Pseudonym) acidóza laktátová s ataxiou, typ I
Pozri tiež (Novšie záhlavie) Leighov syndróm
(Skutočné meno) Leighov syndróm
(Skutočné meno) komplex pyruvátdehydrogenázy
MDT 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 Poznámka 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. 
predmetové heslo
Počet záznamov: 1