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Department of Clinical Chemistry, The Children's Hospital, Ladywood Middleway, Birmingham B16 8ET, UK.
a Address correspondence to this author, at: Department of Clinical Chemistry, Bolton General Hospital, Minerva Rd., Farnworth, Bolton BL4 0JR, UK. Fax (44)1204 390791.
Measurement of lactate concentrations in cerebrospinal fluid (CSF) has
been suggested as part of the investigation of inborn errors of the
electron transport chain, but little information exists regarding the
reference range in children or the relationship between CSF and plasma
concentrations. In 39 children without bacterial meningitis, diabetes,
or recent seizures, we determined that the median (range) lactate
concentrations in CSF and plasma collected concurrently were 1.4
(0.82.2) and 1.5 (0.62.3) mmol/L; the regression equation was CSF
lactate = (0.38 ± 0.06) plasma lactate + 0.83
(r2 = 0.14). In 8 of 11 (73%) children with
electron transport chain defects, CSF lactate was
3.0 mmol/L;
however, 2 of these 8 had a normal plasma lactate concentration. CSF
lactate was also increased in 2 children with nonketotic
hyperglycinemia. The finding that CSF lactate concentrations may be
increased despite a normal plasma lactate value in children with
electron transport chain defects is an important clue to the diagnosis
of these disorders.
Key Words: indexing terms: heritable disorders pediatric chemistry electron transport chain defects hyperglycinemia mitochondria
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