Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.
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DOI: 10.1016/j.ymgme.2020.01.005
Abstract: Methylmalonate semialdehyde dehydrogenase deficiency (MMSDD; MIM 614105) is a rare autosomal recessive defect of valine and pyrimidine catabolism. Four prior MMSDD cases are published. We present a fifth case, along with functional and metabolomic analysis.… read more here.
Keywords: methylmalonate semialdehyde; fifth case; semialdehyde dehydrogenase; dehydrogenase deficiency ... See more keywords