High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 274-276

  van Spronsen, F J ^a   Reijngoud, D J ^b   Verhoeven, N M ^c   Soorani Lunsing, R J ^b   Jakobs, C ^c   Sijens, P E ^b  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Arginine; Argininosuccinate lyase deficiency; Argininosuccinate synthetase deficiency; Citrullinemia; Creatine; Guanidinoacetate; Guanidinoacetate methyltransferase deficiency; Urea cycle defects

Indexed keywords

ARGININE; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; CREATINE; DRUG METABOLITE; GUANIDINOACETIC ACID;

AMINO ACID BLOOD LEVEL; AMINO ACID BRAIN LEVEL; AMINO ACID URINE LEVEL; ARGININOSUCCINATE LYASE DEFICIENCY; ARTICLE; BLOOD LEVEL; BRAIN LEVEL; BRAIN TOXICITY; CASE REPORT; CHILD; CITRULLINEMIA; CONTROLLED STUDY; DRUG MEGADOSE; ENZYME DEFICIENCY; FEMALE; HUMAN; MALE; METABOLITE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; TREATMENT INDICATION; URINE LEVEL;

AMINO ACID METABOLISM, INBORN ERRORS; ARGININE; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ARGININOSUCCINIC ACIDURIA; BRAIN; CHILD; CHILD, PRESCHOOL; CREATINE; FEMALE; GLYCINE; HUMANS; INFANT, NEWBORN; MALE; PREGNANCY;

EID: 33749156389     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.02.005     Document Type: Article

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