Argininemia presenting with progressive spastic diplegia

Pediatric Neurology

Volumn 44, Issue 3, 2011, Pages 218-220

  Lee, Beom Hee ^a   Jin, Hye Young ^a   Kim, Gu Hwan ^a   Choi, Jin Ho ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; AMMONIA; ARGININE; ARYLBUTYRIC ACID DERIVATIVE; ASPARTATE AMINOTRANSFERASE; BENZOIC ACID; CREATINE KINASE; GENOMIC DNA; METHYLPHENIDATE; OROTIC ACID; PROTEIN;

ACHILLES REFLEX; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; AMMONIA BLOOD LEVEL; ARTICLE; ATTENTION DEFICIT DISORDER; BABINSKI REFLEX; BLOOD SAMPLING; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CLONUS; DEVELOPMENTAL STAGE; DIET THERAPY; DISEASE COURSE; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; GAIT DISORDER; GENE MUTATION; HEAD CIRCUMFERENCE; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; HYPERAMMONEMIA; HYPERARGININEMIA; INSOMNIA; LIVER LEVEL; MALE; MUSCLE RIGIDITY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN INTAKE; PROTEIN RESTRICTION; SCHOOL CHILD; SPASTIC DIPLEGIA; SYSTOLIC HEART MURMUR;

ANTI-INFECTIVE AGENTS; BENZOATES; CEREBRAL PALSY; CHILD; DISEASE PROGRESSION; HUMANS; HYPERARGININEMIA; MALE; PHENYLBUTYRATES;

EID: 79851482002     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.11.003     Document Type: Article

References (9)

1. S.W. Brusilow, and A.L. Horwich Urea cycle enzymes C.R. Scriver, A.L. Beaudet, D. Valle, The metabolic and molecular bases of inherited disease 8th ed 2001 McGraw-Hill New York 1909 1963
2. N. Nagata, I. Matsuda, and K. Oyanagi Estimated frequency of urea cycle enzymopathies in Japan Am J Med Genet 39 2010 228 229
3. E.W. Naylor Newborn screening of urea cycle disorders Pediatrics 68 1981 453 457
4. T. Uchino, S.E. Snyderman, and M. Lambert Molecular basis of phenotypic variation in patients with argininemia Hum Genet 96 1995 255 260
5. A. Peralta Serrano Argininuria, convulsions and oligophrenia: A new inborn error of metabolism? Rev Clin Esp 97 1965 176 184
6. E.A. Crombez, and S.D. Cederbaum Hyperargininemia due to liver arginase deficiency Mol Genet Metab 84 2005 243 251 (Pubitemid 40202771)
7. F. Scaglia, and B. Lee Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency Am J Med Genet [C] Semin Med Genet 142C 2006 113 120
8. Y. Haraguchi, M. Takiguchi, Y. Amaya, S. Kawamoto, I. Matsuda, and M. Mori Molecular cloning and nucleotide sequence of cDNA for human liver arginase Proc Natl Acad Sci USA 84 1987 412 415 (Pubitemid 17006205)
9. J.D. Picker, A.C. Puga, and H.L. Levy Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema J Pediatr 142 2003 349 352 (Pubitemid 36338024)