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Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.

Molecular genetics and metabolism - 1 Apr 2020

Dobrowolski Steven F, Alodaib Ahmad, Karunanidhi Anuradha, Basu Shrabini, Holecko Meghan, Lichter-Konecki Uta, Pappan Kirk L, Vockley Jerry

Abstract excerpt

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. The patient, born to non-consanguineous parents of East African origin, was admitted at two weeks of age for failure to thrive. She was nondysmorphic, had a...

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PMID: 32151545
DOI: 10.1016/j.ymgme.2020.01.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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