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Pyruvate dehydrogenase complex (PDHC) deficiency is a disorder of energy metabolism that leads to a range of clinical manifestations. We sought to characterise clinical manifestations and biochemical, neuroimaging and molecular findings in thiamine-responsive and nonresponsive PDHC-deficient patients and to identify potential pitfalls in the diagnosis of PDHC deficiency. We retrospectively reviewed all medical records of all PDHC-deficient patients (n = 19; all had PDHA1 gene mutations) and one patient with severe PDHC deficiency secondary to 3-hydroxyisobutyryl-CoA hydrolase deficiency managed at our centre between 1982 and 2012. Responsiveness to thiamine was based on clinical parameters. Seventeen patients received thiamine treatment: eight did not respond, four showed sustained response and the others responded temporarily/questionably. Sustained response was noted at thiamine doses &gt;400 mg/day. Age at presentation was 0-6 and 12-27 months in the nonresponsive (n = 8) and responsive (n = 4) patients, respectively. Corpus callosum abnormalities were noted in 4/8 nonresponsive patients. Basal ganglia involvement (consistent with Leigh disease) was found in four patients (including 2/4 thiamine-responsive patients). Diagnosis through mutation analysis was more sensitive and specific than through enzymatic analysis. We conclude that patients presenting at age &gt;12 months with relapsing ataxia and possibly Leigh syndrome are more likely to be thiamine responsive than those presenting with neonatal lactic acidosis and corpus callosum abnormalities. However, this distinction is equivocal and treatment with thiamine (&gt;400 mg/day) should be commenced on all patients suspected of having PDHC deficiency. Mutation analysis is the preferable first-line diagnostic test to avoid missing thiamine-responsive patients and misdiagnosing patients with secondary PDHC deficiency.

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment