propionicacidemia

propionicacidemia: pro·pi·on·ic·ac·i·de·mia (pro″pe-on″ik-as″ĭ-deґme-ə) 1. an autosomal recessive aminoacidopathy characterized by an 2. excess of propionic acid in the blood and urine, with ketosis, acidosis, hyperglycinemia, hyperglycinuria, and often neurologic complications. The disorder is caused by mutation in either of the genes encoding the two subunits of propionyl-CoA carboxylase (loci: 13q32, 3q21-q22). excess of propionic acid in the blood, such as that characteristic of multiple carboxylase deficiency.

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propionicacidemia — Defecto metabólico hereditario poco frecuente provocado por la incapacidad del organismo para metabolizar los aminoácidos treonina, isoleucina y metionina, que se caracteriza por letargo y … Diccionario médico
ketotic hyperglycinemia — 1. the elevated accumulation and excretion of glycine accompanied by ketosis that is secondary to propionicacidemia, methylmalonicacidemia, and other organic acidemias, as distinguished from nonketotic hyperglycinemia. 2. propionicacidemia (def.… … Medical dictionary
propionyl-CoA carboxylase — pro·pi·o·nyl CoA car·boxy·lase (proґpe ə nəl ko aґ kahr bokґsə lās) [EC 6.4.1.3] an enzyme of the ligase class that catalyzes the carboxylation of propionyl CoA to form methylmalonyl CoA; the reaction is part of the route by… … Medical dictionary

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