Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system

K Yamada, Y Toribe, K Yanagihara, T Mano… - Brain and …, 2012 - Elsevier
Objective: To determine the diagnostic accuracy of blood and cerebrospinal fluid (CSF)
lactate and pyruvate concentrations in identifying children with mitochondrial diseases (MD)
affecting the central nervous system (CNS). Methods: We studied lactate and pyruvate
concentrations in paired samples of blood and CSF collected concurrently from 17 patients
with MD (Leigh encephalomyelopathy 10, MELAS 5, Pearson disease 1, PDH deficiency 1)
and those from control patients (n= 49). Results: Although blood and CSF variables (lactate …