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pyruvate dehydrogenase complex deficiency disease/muntah
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3 hasil
Citrate treatment in a patient with pyruvate decarboxylase deficiency.
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A 5-year old boy with intermittent sopor, severe vomiting and ataxia since 2 1/2 years old was described. During attack period the patient showed elevation of blood pyruvate and alanine and also cerebrospinal-fluid pyruvate, whereas during the time free from attack only blood pyruvate was increased.
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
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Mutations in the X-linked E1α subunit of the pyruvate dehydrogenase complex (PHDC) are the most frequent causes of PDHC deficiency. The clinical picture is heterogeneous depending on residual enzyme activity and X-inactivation. We report on a girl who presented at an age of 3 weeks with muscular
[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex].
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A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit,
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