An adult with type 2 citrullinemia presenting in Europe

New England Journal of Medicine

Volumn 358, Issue 13, 2008, Pages 1408-1409

  Fiermonte, Giuseppe ^a   Soon, Derek ^b   Chaudhuri, Abhijit ^b   Paradies, Eleonora ^a   Lee, Philip J ^c   Krywawych, Steve ^d   Palmieri, Ferdinando ^a   Lachmann, Robin H ^c  

^a UNIVERSITY OF BARI   (Italy)

^b QUEEN S HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; CARRIER PROTEIN; PROTEIN SLC25A13; UNCLASSIFIED DRUG; ASPARTIC ACID; GLUTAMIC ACID; MITOCHONDRIAL PROTEIN; SLC25A13 PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; AMMONIA BLOOD LEVEL; BRAIN DISEASE; CASE REPORT; CITRULLINEMIA; CITRULLINEMIA TYPE 2; CLINICAL FEATURE; EUROPE; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERAMMONEMIC ENCEPHALOPATHY; LABORATORY TEST; LETTER; MALE; POINT MUTATION; PRIORITY JOURNAL; ACTIVE TRANSPORT; DNA SEQUENCE; FATALITY; GENETICS; LIVER; METABOLISM;

ADULT; ASPARTIC ACID; BIOLOGICAL TRANSPORT, ACTIVE; CITRULLINEMIA; EUROPE; FATAL OUTCOME; GLUTAMIC ACID; HUMANS; HYPERAMMONEMIA; LIVER; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 41449109046     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc0707353     Document Type: Letter

References (5)

1. Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 1999;22:159-63.
2. 2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J 2001;20:5060-9.
3. Robinson AJ, Kunji ER. Mitochondrial carriers in the cytoplasmic state have a common substrate binding site. Proc Natl Acad Sci U S A 2006;103:2617-22.
4. Palmieri F. The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch 2004;447:689-709.
5. Saheki T, Iijima M, Li MX, et al. Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice recapitulate features of human citrin deficiency. J Biol Chem 2007;282:25041-52.