Case reportPyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis☆
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Cited by (56)
Organic Acids
2018, Volpe's Neurology of the NewbornOccasional seizures, epilepsy, and inborn errors of metabolism
2014, The Lancet NeurologyCitation Excerpt :Mitochondrial disorders can also cause infantile spasms. The most prevalent disease is Leigh syndrome, either due to the classic neuropathy, ataxia, and retinitis pigmentosa mutation in mitochondrial MT-ATP6 or secondary to mutations in nuclear genes or to pyruvate dehydrogenase complex deficiency.35,36 MRI findings include symmetrical basal ganglia lesions in Leigh syndrome, or corpus callosum agenesis in pyruvate dehydrogenase complex deficiency and mitochondrial disorders.37
Disorders of pyruvate metabolism
2013, Handbook of Clinical NeurologyCitation Excerpt :The dysmorphism consists of narrowed head with frontal bossing, a wide nasal bridge, an upturned nose, a long philtrum and flared nostrils. Some of these features can also be seen in fetal alcohol syndrome (De Meirleir et al., 1993). Other features are low-set ears, short fingers, and short proximal limbs and simian creases.
Epilepsy in inborn errors of metabolism
2013, Handbook of Clinical NeurologyPyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients
2012, European Journal of Medical GeneticsThe spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
2012, Molecular Genetics and MetabolismCitation Excerpt :Twenty-one cases were omitted from our analysis, owing to lack of explicit enzymological or molecular genetic confirmation of disease [10–20]. Hence, this review summarizes the findings of 371 patients [6,12,21–163] (see Suppl. Table 1). We found 159 full-length, peer-reviewed publications of 392 case reports of patients with PDC deficiency from the first reported case in 1970 [6].
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This work was supported by the Belgian FGWO grant number 3.0065.87.