inical and radiological features of the late-onset methylmalonic aciduria: a review of three cases</span>
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<li><span class="info_l">VernacularTitle:</span><span class="info_r">迟发型甲基丙二酸尿症三例临床和影像学分析</span></li>
<li><span class="info_l">Author:</span>
<span class="info_r" style="margin-left:-4px;">
Zhaoxia NG
;
Wei ZHANG
;
Yanling YANG
;
Yun YUAN
<br>
<div style="display:none" id="affContent">
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</span>
</li>
<li><span class="info_l">Publication Type:</span><span class="info_r">Journal Article</span></li>
<li><span class="info_l">Keywords:</span>
<span class="info_r" style="margin-left:-4px;">
thylmalonic acid;
Vitamin B12;
Hyperhomocystinemia;
Brain;
Atrophy
</span>
</li>
<li><span class="info_l">From:</span><span class="info_r">
<a target="_blank" href="https://www.ecjn.org.cn/" class="websiteLink">Chinese Journal of Neurology</a>
2000;0(04):-
</span>
</li>
<li><span class="info_l">Country</span><span class="info_r">China</span></li>
<li class="mb_30" style="margin-bottom:0px"><span class="info_l">Language:</span><span class="info_r">Chinese</span></li>
<li>
<span class="info_l">Abstract:</span>
<span class="info_r" style="margin-left: -4px;">
<b></b>jective To study the clinical and radiological features of the patients with late-onset methylmalonic aciduria ( MMA). Methods Two men and one woman with MMA were screened and confirmed by urinary organic acid analysis with gas chromatograph/mass spectrometer (GC/MS) at their 26, 18 and 34 years old, respectively. Their clinical features, laboratory findings, radiological manifestations, treatment and outcome were reviewed. Results The clinical features of 3 patients were varied with neurological abnormalities. Case 1 had periodic enuresis for 16 months, progressive dementia and movement disorder for 3 months. Physical examination showed an apparent cognitive decline with psychiatric symptoms. Dysarthria, bilateral weakness and pyramidal signs, rigidity and mild tremor of limbs were observed. Case 2 had a progressive memory deterioration, learning difficulty, walking unstably and decreased vision when he was 13 years old, and a general seizure at an age of 16 years. Diffused abnormalities of EEG and rnild renal defects were found in the above two patients. General white matter hyperintensity and cerebral atrophy on T2-weighted MR images were evident. Additionally, these two patients had hyperhomocystinemia and carnitine deficiency. Case 3 had complained about walking unstably and fatigue over 2 months. Reduced facial movements, deep sensation loss and muscle weakness in lower extremities, marked rigidity and diminished tendon reflexes were detected. Megaloblastic anemia and cobalamin deficiency were found. MRJ performed revealed bilateral symmetric areas having high density involving the globi pallidi, posterior limbs of internal capsule and the cerebral peduncles. Remarkable elevations of urinary methylmalonic and methylcitric acid were confirmed in all 3 patients. After vitamin B12 supplementation, significant improvement was observed. Conclusion Three cases with vitamin BI2 responsive type of late-onset MMA were reported. Two patients were combined with hyperhomocystinemia and the other had only isolated MMA. There might remain prominent differences among MMA subgroups in clinical presentations and neuroradiologic findings. VitaminB12 might be very effective to improve the prognosis of the patients. MMA should be considered as a differential diagnosis for the etiological investigation of adult cerebral metabolic or degenerative diseases.
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