We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
- Authors
Parfait, B.; de Lonlay, P.; von Kleist-Retzow, J. C.; Cormier-Daire, V.; Chrétien, D.; Rötig, A.; Rabier, D.; Saudubray, J. M.; Rustin, P.; Munnich, A.; Chrétien, D; Rötig, A
- Abstract
<bold>Unlabelled: </bold>Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.<bold>Conclusion: </bold>We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
- Subjects
MUSCLE diseases; ADENOSINE triphosphatase; RETINITIS pigmentosa; PATIENTS; ENERGY metabolism; DNA; GENETIC mutation; SYNDROMES; MUSCLE weakness; SMALL intestine; INBORN errors of metabolism; AMINO acids; GENETIC techniques; ATAXIA; GENEALOGY
- Publication
European Journal of Pediatrics, 1999, Vol 158, Issue 1, p55
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s004310051009