Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts

Guanidinoacetate methyltransferase deficiency (MIM 601240) is an autosomal recessive disorder of creatine biosynthesis. Patients present with mental retardation, extrapyramidal symptoms, autistic-like behavior, epilepsy, cerebral creatine deficiency and increased levels of guanidinoacetate. So far 1...

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Veröffentlicht in:	Molecular genetics and metabolism 2006-12, Vol.89 (4), p.392-394
Hauptverfasser:	Almeida, L.S., Rosenberg, E.H., Martinez-Muñoz, C., Verhoeven, N.M., Vilarinho, L., Jakobs, C., Salomons, G.S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - genetics Cerebral creatine deficiency syndrome Creatine - deficiency Fibroblasts - enzymology GAMT Guanidinoacetate N-Methyltransferase - deficiency Guanidinoacetate N-Methyltransferase - genetics HeLa Cells Humans Mental retardation Mutation Transfection
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