Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient

Figure 1

Clinical summary for the MMA family. (a) Family pedigree. An unrelated natural couple who gave birth to the affected child (black arrow denotes the proband). (b) The patient’s axial brain MRI (yellow arrowheads show small patches of abnormal signals in the dorsal thalamic region of the left basal ganglia). (c) Sequence analysis of the human MMUT gene. A c.554C>T mutation of the MMUT gene was identified in the proband, and her mother was an asymptomatic heterozygous carrier. Arrows indicate the positions of the rare mutations. A c.729_730insTT mutation of the MMUT gene was identified in the proband, and her father was an asymptomatic heterozygous carrier. Arrows indicate the positions of the mutations.

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