Article
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
European journal of pediatrics - 1 Oct 1999
Lissens W, Vreken P, Barth P G, Wijburg F A, Ruitenbeek W, Wanders R J, Seneca S, Liebaers I, De Meirleir L
Abstract excerpt
UNLABELLED: Pyruvate dehydrogenase (PDH) complex deficiency, a common cause of congenital lactic acidosis, is mostly due to mutations in the X-linked gene coding for the E1alpha subunit of the complex. We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency. PDH deficiency...
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