Guanidinoacetate methyltransferase deficiency: New clinical features

Pediatric Neurology

Volumn 17, Issue 2, 1997, Pages 155-157

  Ganesan, Vijeya ^a,b   Johnson, Andrew ^a   Connelly, Alan ^a   Eckhardt, Susan ^a   Surtees, Robert A H ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANIDINOACETIC ACID; METHYLTRANSFERASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; EPILEPSY; EXTRAPYRAMIDAL SYMPTOM; HUMAN; INBORN ERROR OF METABOLISM; MALE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE;

AMINO ACID METABOLISM, INBORN ERRORS; BASAL GANGLIA; CHILD, PRESCHOOL; CREATINE; FOLLOW-UP STUDIES; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; METHYLTRANSFERASES; NEUROLOGIC EXAMINATION; PHOSPHOCREATINE;

EID: 0030722925     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(97)00083-0     Document Type: Article

References (4)

1. Walker JB. Creatine: Biosynthesis, regulation and function. Adv Enzymol 1979;50:177-242.
2. Johnson AW, Mills K, Clayton PT. The use of electrospray ionisation mass spectrometry for the diagnosis of inborn errors of metabolism. Biochem Soc Trans 1996;24:933-8.
3. Stockler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart, Hanicke W, Frahm J. Creatine deficiency in the brain: A new, treatable inborn error of metabolism. Pediatr Res 1994;36:409-13.
4. Stockler S, Hanefeld F, Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996;348:789-90.