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Lack of creatine in muscle and brain in an adult with GAMT deficiency
Author(s) -
Schulze Andreas,
Bachert Peter,
Schlemmer Heinz,
Harting Inga,
Polster Tilman,
Salomons Gajja S.,
Verhoeven Nanda M.,
Jakobs Cornelis,
Fowler Brian,
Hoffmann Georg F.,
Mayatepek Ertan
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10455
Subject(s) - creatine , phosphocreatine , medicine , magnetic resonance imaging , skeletal muscle , epilepsy , endocrinology , creatine monohydrate , cardiology , pathology , radiology , psychiatry , alternative medicine , placebo , energy metabolism
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.