Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

被引：75

作者：

Leuzzi, V

Bianchi, MC

Tosetti, M

Carducci, C

Cerquiglini, A

Cioni, G

Antonozzi, I

机构：

[1] Univ La Sapienza, Dipartimento Sci Neurol & Psichiat Eta Evolutiva, Rome, Italy

[2] Osped S Chiara, Dipartimento Neuroradiol, Pisa, Italy

[3] Ist Sci Stella Maris, Pisa, Italy

[4] Univ La Sapienza, Dipartimento Med Sperimentale, Rome, Italy

来源：

NEUROLOGY | 2000年 / 55卷 / 09期

关键词：

D O I：

10.1212/WNL.55.9.1407

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo H-1-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.

引用

页码：1407 / 1409

页数：3

共 10 条

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[2]

CRUTHMILLER P, 1994, J BIOL CHEM, V269, P17556

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