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pyruvate carboxylase deficiency disease/carbohydrate
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Pyruvate carboxylase deficiency in pleiotropic carbohydrate-negative mutant strains of Pseudomonas aeruginosa.
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Cell extracts of Pseudomonas aeruginosa strain PAO were found to contain pyruvate carboxylase activity. Specific activities were minimal when cells were grown on Casamino Acids, acetate, or succinate, but were three- to fourfold higher when cells were grown in glucose, gluconate, glycerol, lactate,
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
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The most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X-linked E1 alpha gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate-sensitive
Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.
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OBJECTIVE
To compare the prevalence of hereditary metabolic diseases in the native and non-native populations of Manitoba and northwestern Ontario.
METHODS
Retrospective analysis.
METHODS
Children's Hospital, Winnipeg.
METHODS
Patients were selected by three methods: laboratory tests designed to
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