Article
[Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy].
Schweizerische medizinische Wochenschrift - 20 Jun 1998
Imoberdorf R, Krähenbühl S, Krapf R
Abstract excerpt
In hospitalized patients rhabdomyolysis is an important clinical entity, leading to myoglobinuria and acute renal failure in 8-25% of cases. When common causes of rhabdomyolysis, such as crush, trauma, infections, and drug abuse are excluded, inherited disorders of energy metabolism, in particula...
Topics
- Adult
- Biopsy
- Carnitine O-Palmitoyltransferase
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Diagnosis, Differential
- Genes, Recessive
- Humans
- Male
- Mitochondria, Muscle
- Muscle, Skeletal
- Mutation
- Rhabdomyolysis