Mental symptoms as the first presentation of late-onset methylmalonic acidemia: report of 3 cases

LI Yan-Fei, PENG Tao, MA Xing-Rong, et al

Chinese Journal of Contemporary Pediatrics ›› 2014, Vol. 16 ›› Issue (1) : 85-86.

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Chinese Journal of Contemporary Pediatrics ›› 2014, Vol. 16 ›› Issue (1) : 85-86. DOI: 10.7499/j.issn.1008-8830.2014.01.019
CASE REPORT

Mental symptoms as the first presentation of late-onset methylmalonic acidemia: report of 3 cases

  • LI Yan-Fei, PENG Tao, MA Xing-Rong, et al
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LI Yan-Fei, PENG Tao, MA Xing-Rong, et al. Mental symptoms as the first presentation of late-onset methylmalonic acidemia: report of 3 cases[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(1): 85-86 https://doi.org/10.7499/j.issn.1008-8830.2014.01.019

References

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[2] 胡宇慧,韩连书. MMA基因突变和发病机制的研究进展[J].国际儿科学杂志, 2007, 34(5): 364-367.
[3] Wajner M, Coelho JC. Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production[J]. J Inher Metab Dis, 1997, 20(6): 761-768.
[4] Tsai AC, Morel CF, Scharer G, et al. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance[J]. Am J Med Genet A, 2007, 143A(20): 2430-2434.
[5] Williams ZR, Hurley PE, Altiparmak UE, et al. Late onset optic neuropathy in methylmalonic propionic acidemia[J]. Am J Ophthalmol, 2009, 147(5): 929-933.
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