Biochemical and clinical studies of Friedreich's ataxia.
A series of biochemical tests aimed at elucidating the fundamental cause has been applied to 20 patients with Friedreich's ataxia. Special emphasis was placed upon pyruvate metabolism. The results demonstrate no precisely identifiable defect in the metabolism of pyruvate but indicate an abnormality in glucose uptake and metabolism.
D000293:Adolescent; D000328:Adult; D000409:Alanine / Q000097:blood / Q000378:metabolism; D001786:Blood Glucose / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D005621:Friedreich Ataxia / Q000097:blood / Q000175:diagnosis / Q000378:metabolism*; D005947:Glucose / Q000008:administration & dosage / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000097:blood / Q000378:metabolism; D007773:Lactates / Q000378:metabolism; D011773:Pyruvates / Q000097:blood / Q000378:metabolism
D001786:Blood Glucose; D007328:Insulin; D007773:Lactates; D011773:Pyruvates; D005947:Glucose; D000409:Alanine