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 NeurologyDisorders 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 GeneticsCitation Excerpt :The majority of cases of PDHc deficiency are caused by mutations in the X-linked E1α subunit gene (PDHA1 gene) [2]. Primary defects of the other subunits appear to be rarer, and only a few cases of E3BP deficiency (PDHX gene; 11p13) have been reported [3–16]. Clinical presentation of patients with PDH deficiency is heterogeneous, ranging from fatal lactic acidosis in the newborn period to chronic neurodegenerative abnormalities [1].
The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
2012, Molecular Genetics and MetabolismCitation Excerpt :We sought associations among various pathological indices that could provide new insight into the pathobiology and clinical course of this disease. We reviewed all English language publications under “pyruvate dehydrogenase deficiency” and deficiency of each individual subunit and component of the complex listed in PubMed and Google Scholar from 1970 through December, 2010 [6,10–163]. Additional publications were found by reviewing the references included in articles not identified by the search engines.
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This work was supported by the Belgian FGWO grant number 3.0065.87.