Optic neuropathy in a patient with pyruvate dehydrogenase deficiency
β Scribed by Juan E. Small; Guido E. Gonzalez; Karina E. Nagao; David S. Walton; Paul A. Caruso
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- English
- Weight
- 166 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0301-0449
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A 35-year-old man with ulcerative colitis who was receiving parenteral feeding with large amounts of glucose, suddenly developed severe optic neuropathy and oculomotor palsy. The visual acuity fell bilaterally to 0. Although it was stated that thiamine has been regularly supplemented in the precedin
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
Communicated by