In three infants with neonatal lacticacidaemia, a deficiency in the E1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex was demonstrated in skin fibroblast cultures. Residual activites of the pyruvate dehydrogenase complex in the activated state were 1.6%, 3.9% and 18.8% of c
✦ LIBER ✦
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency
✍ Scribed by H. Wick; K. Schweizer; R. Baumgartner
- Publisher
- SP Birkhäuser Verlag Basel
- Year
- 1977
- Tongue
- English
- Weight
- 422 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1420-908X
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Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod