Low creatinine: The diagnostic clue for a treatable neurologic disorder

Neurology

Volumn 72, Issue 9, 2009, Pages 854-855

  Bodamer, O A ^a,c   Iqbal, F ^a   Muhl A ^a   Hung, C ^a   Prayer, D ^b   Ratschmann, R ^a   Item, B C ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c ST ANNA CHILDREN S HOSPITAL   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; CREATINE; CREATINE PHOSPHATE; CREATININE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; ORNITHINE; BIOLOGICAL MARKER; DRUG DERIVATIVE; GAMT PROTEIN, HUMAN; GLYCINE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CREATININE BLOOD LEVEL; ENZYME DEFICIENCY; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NEUTRON ACTIVATION ANALYSIS; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRESCHOOL CHILD; PRIORITY JOURNAL; BLOOD; ENZYMOLOGY; GENETICS; INFANT; METABOLISM; URINE;

BIOLOGICAL MARKERS; CREATINE; CREATININE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; MALE; NERVOUS SYSTEM DISEASES;

EID: 62849128860     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000343955.66292.07     Document Type: Article

References (6)

1. Schulze A, Hess T, Wevers R, et al. Creatine deficiency syndrome caused guanidine-acetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 1997:131:626-631.
2. Salomons GS, van Dooren SJ, Verhoeven NM, et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001;68: 1497-500.
3. Item CB, Stockler-Ipsiroglu S, Stromberger C, et al. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 2001:69:1127-1133.
4. Vodopiutz J, Item CB, Hausler M, Korall H, Bodamer OA. Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. J Child Neurol 2007:22:773-774.
5. Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, et al. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 2006:67:480-484.
6. Verbruggen KT, Sijens PE, Schulze A, et al. Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. Mol Genet Metab 2007:91:294-296.