“Pyruvate Carboxylase Deficiency”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PC) idc10=E74.4

Genomic coordinate (human 11:66,547,432 PC).

Cytoband (human 11q13.2 PC).

Here I  🎁 present: “Pyruvate Carboxylase Deficiency”, Victor McKusick, Mende­lian Inheritance i­n Ma­n’, 1966. (PC) idc10=E74.4

Pyruvate carboxylase (PC) deficiency is an autosomal recessive metab­olic disorder  caused by mutations in the (PC) gene, preventing the body from producing energy correctly, leading to severe lactic acidosis, high blood ammonia, and severe neurological damage. Symptoms include severe developmental delay, seizures, hypotonia, and poor feeding, with three (3) typ­es ranging from fatal-neonatal  (Type-B) to infantile (Type-A) and milder-delayed (Type-C).

There is evidence that “pyruvate carboxylase deficiencies” is caused by mutations in the pyruvate carboxylase (PC) gene encoded on genomic coordinate 11:66,547,432 and cytoband 11q13.2 in humans.