Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

Amino Acids

Volumn 47, Issue 9, 2015, Pages 1751-1762

  Schlune, A ^a   Vom Dahl, S ^a   Haussinger D ^a   Ensenauer, R ^a   Mayatepek, E ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Arginase deficiency; Guanidino compounds; Hyperargininemia; Oxidative stress; Urea cycle

Indexed keywords

4 PHENYLBUTYRIC ACID; AMMONIA; ARGINASE 1; ARGININE; BENZOIC ACID; CATECHOLAMINE; ETIRACETAM; PHENOBARBITAL; UREA; ARGINASE; ARGINASE I, HUMAN; GUANIDINE;

AMINO ACID BLOOD LEVEL; AMMONIA BLOOD LEVEL; ARG1 GENE; ARGININE INTAKE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIET RESTRICTION; DIETARY INTAKE; DISEASE MARKER; DRUG MEGADOSE; DYSTROPHY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FEEDING DISORDER; FEMALE; GASTROSTOMY; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERAMMONEMIA; HYPERARGININEMIA; HYPERTHYROIDISM; LIVER FIBROSIS; MALNUTRITION; NONALCOHOLIC FATTY LIVER; PATHOGENESIS; PNEUMONIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTAKE; PROTEIN RESTRICTION; RICKETS; SEIZURE; SEPTICEMIA; THYROIDECTOMY; UNDERWEIGHT; UREA BLOOD LEVEL; URINARY EXCRETION; GENETICS; INFANT; LIVER DISEASE; METABOLISM; PARAPLEGIA; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ARGINASE; ARGININE; CHILD, PRESCHOOL; FEMALE; GUANIDINE; HUMANS; HYPERAMMONEMIA; HYPERARGININEMIA; INFANT; LIVER DISEASES; PARAPLEGIA; SEIZURES;

EID: 84940724083     PISSN: 09394451     EISSN: 14382199     Source Type: Journal    
DOI: 10.1007/s00726-015-2032-z     Document Type: Article

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