PMC9294225_01
The patient's brain MRI showed abnormal signals in the vermis and in the bilateral cerebellar hemispheres, with low signal on T1-weighted image (A), high signal on T2-weighted image (B), and high signal on DWI sequence (C) with Gd enhancement (D).
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F1
The patient's brain MRI showed abnormal signals in the vermis and in the bilateral cerebellar hemispheres (Figure 1), with low signal on T1-weighted image (A), high signal on T2-weighted image (B), and high signal on DWI sequence (C) with Gd enhancement (D).
GC-MS urinary organic acid profile. The arrow showed spectrum of elevated methylmalonic acid, which was 100 times higher than normal levels.
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F2
Urine examination results showed increased methylmalonic acid (306.4 mumol/mmol creatinine, normal range 0.0-4.0 mumol/mmol creatinine) and methyl citrate (5.6 mumol/mmol creatinine, normal range 0.0-0.7 mumol/mmol creatinine) levels, indicating MMA (Figure 2); The levels of 3-hydroxypropionic acid and acetone were also found increased in the urea, indicating ketonuria.
Results of the MMACHC gene test. Gene mutation in c.484G>A and c.658_660del. c.484G>A (red arrows) was observed due to an amino acid change in codon position 162, which is highly suspected to be a new genetic mutation.
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F3
A genetic analysis was performed with the permission of the patient's parents and showed mutation in MMACHC gene: c.484G>A/c.658_660del (Figure 3).