Low citrulline in leigh disease: Still a biomarker of maternally inherited leigh syndrome

Journal of Child Neurology

Volumn 25, Issue 8, 2010, Pages 1000-1002

  Debray, François Guillaume ^a   Lambert, Marie ^b   Allard, Pierre ^b   Mitchell, Grant A ^b  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b UNIVERSITY OF MONTREAL   (Canada)

Author keywords

amino acids; citrulline; lactic acidosis; Leigh syndrome; mitochondrial disease

Indexed keywords

BIOLOGICAL MARKER; CITRULLINE; LACTIC ACID; MITOCHONDRIAL DNA;

ABNORMALLY LOW SUBSTRATE CONCENTRATION IN BLOOD; ARTICLE; BRAIN DISEASE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOCITRULLINEMIA; INFANT; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; LEIGH DISEASE; LIVER BIOPSY; MUSCLE BIOPSY; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; SENSITIVITY AND SPECIFICITY; SIBLING;

ADULT; ARGININOSUCCINATE SYNTHASE; BIOLOGICAL MARKERS; CHILD, PRESCHOOL; CITRULLINE; CITRULLINEMIA; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; LEIGH DISEASE; MALE;

EID: 77954746078     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809351983     Document Type: Article

References (9)

1. Debray FG, Lambert M., Lortie A., et al. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am J Med Genet. 2007 ; 143A: 2046-2051.
2. Parfait P., de Lonlay P., von Kleist-Retzow JC, et al. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr. 1999 ; 158: 55-58.
3. Rabier D., Diry C., Rötig A., et al. Persistent hypocitrullinaemia as a marker for mtDNA NARP T8993G mutation ? J Inher Metab Dis. 1998 ; 21: 216-219.
4. Ribes A., Riudor E., Valcarel R., et al. Pearson syndrome: altered tricarboxylic and urea cycle metabolites, adrenal insufficiency and corneal opacities. J Inher Metab Dis. 1993 ; 16: 537-540.
5. Naini A., Kaufmann P., Shanske S., et al. Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox. J Neurol Sci. 2005 ; 229: 187-193.
6. Vazquez-Memije ME, Shankse S., Santorelli FM, et al. Comparative biochemical studies of ATPase in cells from patients with the T8993G or T8993C mitochondrial DNA mutation. J Inher Metab Dis. 1998 ; 21: 829-836.
7. Rahman S., Blok RB, Dahl HHM, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996 ; 39: 343-351.
8. Santorelli FM, Shanske S., Macaya A., et al. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh syndrome. Ann Neurol. 1999 ; 34: 827-834.
9. White SL, Shanske S., McGill JJ, et al. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue-or age-related variation. J Inher Metab Dis. 1999 ; 22: 899-914.