Diagnosis of pyruvate dehydrogenase complex deficiency in biopsied muscles and cultured skin fibroblasts
Naito, E.; Toshima, K.; Kuroda, Y.; Takeda, E.; Miyao, M.
No to Hattatsu 18(6): 459-463
1986
ISSN/ISBN: 0029-0831 PMID: 3098264 Document Number: 285796
Pyruvate dehydrogenase complex (PDH complex), which is deficient in some patients with congenital lactic acidosis, exists in two interconvertible forms: it is inactive in the phosphorylated form and active in the dephoshorylatsed form. We measured the native and total activities of PDH complex in biopsied muscles and cultured skin fibroblasts from patients with lactic acidosis and controls using a protein phosphatase with broad specificity. The diagnosis of partial PDH complex deficiency could be established by measuring the native or total activity of PDH complex in cultured skin fibroblasts. However the total activity of PDH complex in biopsied muscles must be determined to confirm the diagnosis of partial PDH complex deficiency, because the native activity of PDH complex in muscle might be extremely changed in various metabolic conditions.