Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Guanidinoacetate methyltransferase deficiency, which so far has been exclusively detected in children, was diagnosed in a 26-year-old man. The full-blown spectrum of clinical symptoms already had been present since infancy without progression of symptoms during adolescence. Cranial magnetic resonance imaging showed normal findings. Ophthalmological examination showed no retinal changes. Besides creatine deficiency in the brain, a distinct lack of phosphocreatine in skeletal muscle was proved by (31)P magnetic resonance spectroscopy. Creatine substitution combined with a guanidinoacetate-lowering diet introduced first at the age of 26 years was shown to be effective by an impressive improvement of epileptic seizures, mental capabilities, and general behavior and by normalization of the (31)P spectrum in the skeletal muscle.
Schulze
Andreas
A
Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany. andreas_schulze@med.uni-heidelberg.de
Bachert
Peter
P
Schlemmer
Heinz
H
Harting
Inga
I
Polster
Tilman
T
Salomons
Gajja S
GS
Verhoeven
Nanda M
NM
Jakobs
Cornelis
C
Fowler
Brian
B
Hoffmann
Georg F
GF
Mayatepek
Ertan
E
D000328:Adult; D000367:Age Factors; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D003401:Creatine / Q000172:deficiency*; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008780:Methyltransferases / Q000172:deficiency*; D018482:Muscle, Skeletal / Q000378:metabolism*; D010725:Phosphocreatine / Q000172:deficiency; D010759:Phosphorus Isotopes
D010759:Phosphorus Isotopes; D010725:Phosphocreatine; D008780:Methyltransferases; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; D003401:Creatine