Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 216-219

  Rabier, D ^a   Diry, C ^a   Rotig, A ^a   Rustin, P ^a   Heron, B ^b   Bardet, J ^a   Parvy, P ^a   Ponsot, G ^b   Marsac, C ^a   Saudubray, J M ^a   Munnich, A ^a   Kamoun, P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CITRULLINE; MITOCHONDRIAL DNA;

CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; FEMALE; GENE MUTATION; HUMAN; INFANT; MALE; METABOLIC DISORDER; MITOCHONDRIAL MEMBRANE; PRESCHOOL CHILD; PROTON TRANSPORT; SCHOOL CHILD;

EID: 7344261883     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005391300203     Document Type: Conference Paper

References (6)

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2. Rabier D, Kamoun P (1995) Metabolism of citrulline in man. Amino Acids 9: 299-316.
3. Rabier D, Benoit A, Petit F, et al (1989) Ornithine carbamoyltransferase deficiency: a new variant with subnormal enzyme activity. Clin Chim Acta 186: 25-30.
4. Ribes A, Riudor E, Valcarel R, et al (1993) Pearson syndrome: altered tricarboxylic and urea cycle metabolites, adrenal insufficiency and corneal opacities. J Inher Metab Dis 16: 537-540.
5. Rustin P, Chretien D, Bourgeron T, et al (1994) Biochemical and molecular investigations in the respiratory chain deficiencies. Clin Chim Acta 228: 35-51.
6. Wanders RJA, Van Woerkom GM, Nooteboom RF, Meijer AS, Tager JM (1981) Relationship between the rate of citrulline synthesis and bulk changes in the intramitochondrial ATP/ADP ratio in rat liver mitochondria. Eur J Biochem 113: 295-302.