ISSN:
1432-1076
Keywords:
Lactic acidosis
;
Sudden death
;
Pyruvate dehydrogenase
;
Subunits
;
Mitochondrial myopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract An infant with moderate muscular hypotonia and congenital lactic acidosis died suddenly at the age of 3 months. Autopsy revealed no abnormalities responsible for this unexpected death. Measurement of mitochondrial enzymes involved in energy production indicated a severely decreased total pyruvate dehydrogenase complex (PDHC) activity in muscle tissue (0.23 nmoles · min−1 · mg protein−1, control range 2.8–8.7) and moderately decreased PDHC activity in fibroblasts (0.27 nmoles · min−1 · mg protein−1, control range 0.37–2.32). The activity of the first component E1 (pyruvate dehydrogenase) in muscle tissue was 10 times lower than that of controls (0.008 nmoles · min−1 · mg protein−1, control range 0.10–0.25). The activities of dihydrolipoyl dehydrogenase (E3) and various other mitochondrial enzymes were normal. Immunochemical analysis in skeletal muscle tissue and fibroblasts demonstrated a decrease in the amount of the α and β subunits of E1. The features of this patient are compared with those of other patients reported in the literature with immunochemically confirmed combined E1 α and β deficiency.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01959401
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