Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

被引:24
|
作者
Morris, A. A. M. [1 ]
Appleton, R. E.
Power, B.
Isherwood, D. M.
Abernethy, L. J.
Taylor, R. W.
Turnbull, D. M.
Verhoeven, N. M.
Salomons, G. S.
Jakobs, C.
机构
[1] Royal Manchester Childrens Hosp, Willink Unit, Manchester M27 1HA, Lancs, England
[2] Royal Liverpool Childrens Hosp, Dept Neurol, Liverpool L7 7DG, Merseyside, England
[3] Royal Liverpool Childrens Hosp, Dept Biochem, Liverpool L7 7DG, Merseyside, England
[4] Royal Liverpool Childrens Hosp, Dept Radiol, Liverpool L7 7DG, Merseyside, England
[5] Univ Newcastle Upon Tyne, Sch Neurol Neurobiol & Psychiat, Mitochondrial Res Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[6] Vrije Univ Amsterdam, Med Ctr, Metab Unit, Dept Clin Chem, Amsterdam, Netherlands
关键词
D O I
10.1007/s10545-006-0478-2
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis. We report a patient who presented at 10 months of age with hypotonia and global developmental delay. Subsequently, she developed seizures and choreoathetosis. Magnetic resonance imaging showed high signal bilaterally in the globus pallidus on T2-weighted images. Mitochondrial respiratory chain studies revealed low complex I activity (in muscle 0.052 nmol NADH oxidized per min per unit citrate synthase, controls 0.166 +/- 0.047; in fibroblasts 0.080 nmol NADH oxidized per min per unit citrate synthase, controls 0.197 +/- 0.034). The true diagnosis was suspected at 21 months of age because of persistent low plasma and urine creatinine concentrations. GAMT activity was undetectable in fibroblasts and compound heterozygous mutations were found in the GAMT gene (c.327G>A and c.522G>A). The patient was treated with creatine, dietary arginine restriction and ornithine supplements. Her movement disorder and seizures resolved but she still has severe cognitive impairment and no expressive language. The occurrence of secondary respiratory chain abnormalities in GAMT deficiency may lead to misdiagnosis, particularly as the clinical and radiological features resemble those seen in mitochondrial encephalopathies. It is important to establish the correct diagnosis because specific treatment is available.
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页码:100 / 100
页数:1
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