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Lack of creatine in muscle and brain in an adult with GAMT deficiency

✍ Scribed by Andreas Schulze; Peter Bachert; Heinz Schlemmer; Inga Harting; Tilman Polster; Gajja S. Salomons; Nanda M. Verhoeven; Cornelis Jakobs; Brian Fowler; Georg F. Hoffmann; Ertan Mayatepek

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
91 KB
Volume
53
Category
Article
ISSN
0364-5134

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✦ Synopsis

Abstract

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.

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