PMC9048794_01
Brain MRI images. (A,B,D) Brain atrophy was found in Transverse T1 and T2 weighted image and Sagittal T1 weighted image(the red arrow); Sulci fissure widened and deepened in Transverse T1 and T2 weighted image (the green arrow); (C) High signal in white matter near to bilateral periventricular in FLAIR sequence (the yellow arrow).
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F1
Brain magnetic resonance imaging (MRI) showed encephalomalacia and gliosis in the left frontal and parietal lobe and basal ganglia, with regional brain atrophy, and abnormal signals in the left lateral ventricle and semicovale region (Figure 1).
The family pedigree showing the mutations detected in MMACHC. (A) The pedigree of the family with MMA. The arrow indicates the proband; her parents have no signs of MMA. (B) The mutations detected in the family. The proband has both mutations, while the c. 80A >G mutation was only detected in her mother and the c. 609G > A mutation was only detected in her father.
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F2
A (p.Trp203*) in exon 4 [reference sequence: NM_015560) from father (Figure 2). c.609G > A(p.Trp203*]is a nonsense mutation, which is expected to change the 203rd amino acid of encoded protein from Trp to stop codon, causing the encoded protein to be truncated and lose its normal function. As was reported in several literatures, this mutation is a hot mutation in Chinese patients with methylmalonic acidemia and homocysteinemia.